An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.
An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS.
A characteristic symptom complex.
A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
A class of immunoglobulin bearing mu chains (IMMUNOGLOBULIN MU-CHAINS). IgM can fix COMPLEMENT. The name comes from its high molecular weight and originally being called a macroglobulin.
Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (MuLV). The syndrome shows striking similarities with human AIDS and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.
A membrane glycoprotein and differentiation antigen expressed on the surface of T-cells that binds to CD40 ANTIGENS on B-LYMPHOCYTES and induces their proliferation. Mutation of the gene for CD40 ligand is a cause of HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1.
The type species of LENTIVIRUS and the etiologic agent of AIDS. It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Species of the genus LENTIVIRUS, subgenus primate immunodeficiency viruses (IMMUNODEFICIENCY VIRUSES, PRIMATE), that induces acquired immunodeficiency syndrome in monkeys and apes (SAIDS). The genetic organization of SIV is virtually identical to HIV.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Human immunodeficiency virus. A non-taxonomic and historical term referring to any of two species, specifically HIV-1 and/or HIV-2. Prior to 1986, this was called human T-lymphotropic virus type III/lymphadenopathy-associated virus (HTLV-III/LAV). From 1986-1990, it was an official species called HIV. Since 1991, HIV was no longer considered an official species name; the two species were designated HIV-1 and HIV-2.
Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.
Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus.
Acquired defect of cellular immunity that occurs naturally in macaques infected with SRV serotypes, experimentally in monkeys inoculated with SRV or MASON-PFIZER MONKEY VIRUS; (MPMV), or in monkeys infected with SIMIAN IMMUNODEFICIENCY VIRUS.
A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)
A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating AIDS-related complex (ARC) from AIDS include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in AIDS; follicular or mixed hyperplasia in ARC lymph nodes, leading to lymphocyte degeneration and depletion more typical of AIDS; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown AIDS.
A member of the tumor necrosis factor receptor superfamily with specificity for CD40 LIGAND. It is found on mature B-LYMPHOCYTES and some EPITHELIAL CELLS, lymphoid DENDRITIC CELLS. Evidence suggests that CD40-dependent activation of B-cells is important for generation of memory B-cells within the germinal centers. Mutations of the gene for CD40 antigen result in HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 3. Signaling of the receptor occurs through its association with TNF RECEPTOR-ASSOCIATED FACTORS.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (FIV) and in some cats infected with feline leukemia virus (FeLV).
A species of LENTIVIRUS, subgenus feline lentiviruses (LENTIVIRUSES, FELINE) isolated from cats with a chronic wasting syndrome, presumed to be immune deficiency. There are 3 strains: Petaluma (FIP-P), Oma (FIP-O) and Puma lentivirus (PLV). There is no antigenic relationship between FIV and HIV, nor does FIV grow in human T-cells.
A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.
The sexual attraction or relationship between members of the same SEX.
Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV).
A dideoxynucleoside compound in which the 3'-hydroxy group on the sugar moiety has been replaced by an azido group. This modification prevents the formation of phosphodiester linkages which are needed for the completion of nucleic acid chains. The compound is a potent inhibitor of HIV replication, acting as a chain-terminator of viral DNA during reverse transcription. It improves immunologic function, partially reverses the HIV-induced neurological dysfunction, and improves certain other clinical abnormalities associated with AIDS. Its principal toxic effect is dose-dependent suppression of bone marrow, resulting in anemia and leukopenia.
Agents used to treat AIDS and/or stop the spread of the HIV infection. These do not include drugs used to treat symptoms or opportunistic infections associated with AIDS.
Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.
The number of CD4-POSITIVE T-LYMPHOCYTES per unit volume of BLOOD. Determination requires the use of a fluorescence-activated flow cytometer.
A pulmonary disease in humans occurring in immunodeficient or malnourished patients or infants, characterized by DYSPNEA, tachypnea, and HYPOXEMIA. Pneumocystis pneumonia is a frequently seen opportunistic infection in AIDS. It is caused by the fungus PNEUMOCYSTIS JIROVECII. The disease is also found in other MAMMALS where it is caused by related species of Pneumocystis.
Antibodies reactive with HIV ANTIGENS.
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.
B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation.
Proteins encoded by the TAT GENES of the HUMAN IMMUNODEFICIENCY VIRUS.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
Antigens associated with specific proteins of the human adult T-cell immunodeficiency virus (HIV); also called HTLV-III-associated and lymphadenopathy-associated virus (LAV) antigens.
Drug regimens, for patients with HIV INFECTIONS, that aggressively suppress HIV replication. The regimens usually involve administration of three or more different drugs including a protease inhibitor.
An HIV species related to HIV-1 but carrying different antigenic components and with differing nucleic acid composition. It shares serologic reactivity and sequence homology with the simian Lentivirus SIMIAN IMMUNODEFICIENCY VIRUS and infects only T4-lymphocytes expressing the CD4 phenotypic marker.
A group of enzymes that catalyze an intramolecular transfer of a phosphate group. It has been shown in some cases that the enzyme has a functional phosphate group, which can act as the donor. These were previously listed under PHOSPHOTRANSFERASES (EC 2.7.-). (From Enzyme Nomenclature, 1992) EC 5.4.2.
A genus in the family RETROVIRIDAE consisting of exogenous horizontally-transmitted viruses found in a few groups of mammals. Infections caused by these viruses include human B- or adult T-cell leukemia/lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED), and bovine leukemia (ENZOOTIC BOVINE LEUKOSIS). The type species is LEUKEMIA VIRUS, BOVINE.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
External envelope protein of the human immunodeficiency virus which is encoded by the HIV env gene. It has a molecular weight of 120 kDa and contains numerous glycosylation sites. Gp120 binds to cells expressing CD4 cell-surface antigens, most notably T4-lymphocytes and monocytes/macrophages. Gp120 has been shown to interfere with the normal function of CD4 and is at least partly responsible for the cytopathic effect of HIV.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause.
A species of the genus MACACA inhabiting India, China, and other parts of Asia. The species is used extensively in biomedical research and adapts very well to living with humans.
Ribonucleic acid that makes up the genetic material of viruses.
A major core protein of the human immunodeficiency virus encoded by the HIV gag gene. HIV-seropositive individuals mount a significant immune response to p24 and thus detection of antibodies to p24 is one basis for determining HIV infection by ELISA and Western blot assays. The protein is also being investigated as a potential HIV immunogen in vaccines.
Proteins coded by the retroviral gag gene. The products are usually synthesized as protein precursors or POLYPROTEINS, which are then cleaved by viral proteases to yield the final products. Many of the final products are associated with the nucleoprotein core of the virion. gag is short for group-specific antigen.
The quantity of measurable virus in a body fluid. Change in viral load, measured in plasma, is sometimes used as a SURROGATE MARKER in disease progression.
Biochemical identification of mutational changes in a nucleotide sequence.
Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness.
An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression.
The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
55-kDa antigens found on HELPER-INDUCER T-LYMPHOCYTES and on a variety of other immune cell types. CD4 antigens are members of the immunoglobulin supergene family and are implicated as associative recognition elements in MAJOR HISTOCOMPATIBILITY COMPLEX class II-restricted immune responses. On T-lymphocytes they define the helper/inducer subset. CD4 antigens also serve as INTERLEUKIN-15 receptors and bind to the HIV receptors, binding directly to the HIV ENVELOPE PROTEIN GP120.
A critical subpopulation of T-lymphocytes involved in the induction of most immunological functions. The HIV virus has selective tropism for the T4 cell which expresses the CD4 phenotypic marker, a receptor for HIV. In fact, the key element in the profound immunosuppression seen in HIV infection is the depletion of this subset of T-lymphocytes.
Established cell cultures that have the potential to propagate indefinitely.
Deoxyribonucleic acid that makes up the genetic material of viruses.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Inhibitors of reverse transcriptase (RNA-DIRECTED DNA POLYMERASE), an enzyme that synthesizes DNA on an RNA template.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Lymphoid cells concerned with humoral immunity. They are short-lived cells resembling bursa-derived lymphocytes of birds in their production of immunoglobulin upon appropriate stimulation.
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
Virus diseases caused by the RETROVIRIDAE.
Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)
Hypersecretion of THYROID HORMONES from the THYROID GLAND. Elevated levels of thyroid hormones increase BASAL METABOLIC RATE.
Immunoglobulins produced in response to VIRAL ANTIGENS.
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A reverse transcriptase encoded by the POL GENE of HIV. It is a heterodimer of 66 kDa and 51 kDa subunits that are derived from a common precursor protein. The heterodimer also includes an RNAse H activity (RIBONUCLEASE H, HUMAN IMMUNODEFICIENCY VIRUS) that plays an essential role the viral replication process.
An immunoglobulin associated with MAST CELLS. Overexpression has been associated with allergic hypersensitivity (HYPERSENSITIVITY, IMMEDIATE).
An immunoglobulin which accounts for less than 1% of plasma immunoglobulin. It is found on the membrane of many circulating B LYMPHOCYTES.
Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS.
Retroviral proteins, often glycosylated, coded by the envelope (env) gene. They are usually synthesized as protein precursors (POLYPROTEINS) and later cleaved into the final viral envelope glycoproteins by a viral protease.
Proteins encoded by the NEF GENES of the HUMAN IMMUNODEFICIENCY VIRUS.
Proteins from the family Retroviridae. The most frequently encountered member of this family is the Rous sarcoma virus protein.
An enzyme that catalyzes the reversible isomerization of D-mannose-6-phosphate to form D-fructose-6-phosphate, an important step in glycolysis. EC 5.3.1.8.
Immune status consisting of non-production of HIV antibodies, as determined by various serological tests.
Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).
Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
Immunologic tests for identification of HIV (HTLV-III/LAV) antibodies. They include assays for HIV SEROPOSITIVITY and HIV SERONEGATIVITY that have been developed for screening persons carrying the viral antibody from patients with overt symptoms of AIDS or AIDS-RELATED COMPLEX.
Light-induced change in a chromophore, resulting in the loss of its absorption of light of a particular wave length. The photon energy causes a conformational change in the photoreceptor proteins affecting PHOTOTRANSDUCTION. This occurs naturally in the retina (ADAPTATION, OCULAR) on long exposure to bright light. Photobleaching presents problems when occurring in PHOTODYNAMIC THERAPY, and in FLUORESCENCE MICROSCOPY. On the other hand, this phenomenon is exploited in the technique, FLUORESCENCE RECOVERY AFTER PHOTOBLEACHING, allowing measurement of the movements of proteins and LIPIDS in the CELL MEMBRANE.
Morphologic alteration of small B LYMPHOCYTES or T LYMPHOCYTES in culture into large blast-like cells able to synthesize DNA and RNA and to divide mitotically. It is induced by INTERLEUKINS; MITOGENS such as PHYTOHEMAGGLUTININS, and by specific ANTIGENS. It may also occur in vivo as in GRAFT REJECTION.
A dideoxynucleoside compound in which the 3'-hydroxy group on the sugar moiety has been replaced by a hydrogen. This modification prevents the formation of phosphodiester linkages which are needed for the completion of nucleic acid chains. Didanosine is a potent inhibitor of HIV replication, acting as a chain-terminator of viral DNA by binding to reverse transcriptase; ddI is then metabolized to dideoxyadenosine triphosphate, its putative active metabolite.
Agents used in the prophylaxis or therapy of VIRUS DISEASES. Some of the ways they may act include preventing viral replication by inhibiting viral DNA polymerase; binding to specific cell-surface receptors and inhibiting viral penetration or uncoating; inhibiting viral protein synthesis; or blocking late stages of virus assembly.
Elements of limited time intervals, contributing to particular results or situations.

Osteopenia in X-linked hyper-IgM syndrome reveals a regulatory role for CD40 ligand in osteoclastogenesis. (1/8)

We report that osteopenia is a prominent and previously unappreciated clinical feature of patients with X-linked hyper-IgM syndrome, an inherited immune deficiency disorder caused by mutations in the gene encoding CD40 ligand (CD40L). We therefore conducted studies to determine the relationship between CD40L and osteoclastogenesis. Recognizing that activated T cells express surface receptor activator of NF-kappaB ligand (RANKL) and can induce osteoclast differentiation of myeloid cells expressing RANK, we assessed the capacity of wild-type T cells and CD40L(-/-) T cells to induce osteoclastogenesis in vitro. Relative to wild-type T cells, activated CD40L(-/-) T cells from both humans and mice promoted robust osteoclast differentiation of myeloid cells. Whereas activated CD40L(-/-) T cells had normal expression of RANKL, they were deficient in IFN-gamma production. In subsequent studies, we cultured activated CD40L(-/-) T cells in the presence of IFN-gamma, and we found that the osteoclastic capacity of CD40L(-/-) T cells could be greatly diminished. These results show that CD40L can influence RANKL signaling through T cell priming, and thus they demonstrate a regulatory role for CD40L in bone mineralization that is absent in patients with X-linked hyper-IgM syndrome.  (+info)

Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting. (2/8)

 (+info)

Impaired maintenance of naturally acquired T-cell memory to the meningococcus in patients with B-cell immunodeficiency. (3/8)

 (+info)

CD40 ligand deficiency: neurologic sequelae with radiographic correlation. (4/8)

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Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. (5/8)

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CD40 ligand deficiency with grade III liver fibrosis, transplanted by a treosulphan-based conditioning regimen. (6/8)

X-linked Hyper IgM is characterized by an absence of the CD40 ligand on activated T lymphocytes resulting in defects of both cellular and humoral immunity. Patients usually present with recurrent bacterial and opportunistic infections. Chronic liver disease is seen in about 75% of patients as a complication. Here, we report a 3.5-year-old boy with X-linked Hyper IgM referred to our clinic for bone marrow transplant. He was transplanted from an HLA-identical sibling donor using a new conditioning agent, treosulphan, together with cyclophosphamide. Since 6 months of age, he has had recurrent respiratory infections, and his XHIGM was diagnosed when he was 1.5 years old. The diagnosis was confirmed by sequence analysis of the CD40L gene. On physical examination, growth failure, bilateral fine crackles in both lungs, and hepatosplenomegaly were detected. The results of his liver function tests were abnormal, and a liver biopsy showed grade III fibrosis and compensated cirrhosis. After conditioning with treosulphan (12 g/m(2)/d x 3 d) and cyclophosphamide (50 mg/kg/d x 4 d), bone marrow from his HLA-identical sister was infused. CD40L expression on activated lymphocytes of the patient was 84% on day +21. His posttransplant period was uneventful. He is now at posttransplant 2 years, with full donor chimerism, and mild, chronic, graft-versus-host disease on his tongue. In conclusion, treosulphan is a new agent for conditioning regimen with less toxicity in patients with severe liver disease.  (+info)

The role of CD40/CD40 ligand interactions in bone marrow granulopoiesis. (7/8)

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CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome. (8/8)

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Dysgammaglobulinemia is a medical term that refers to an abnormal gamma globulin or immunoglobulin (antibody) level in the blood. Gamma globulins are proteins that play a crucial role in the immune system and help fight off infections. Immunoglobulins are classified into five types (IgA, IgD, IgE, IgG, and IgM), each with a specific function in the immune response.

In dysgammaglobulinemia, there is an imbalance in the levels of these immunoglobulins, which can be either elevated or decreased. This condition can result from various underlying causes, including genetic disorders, autoimmune diseases, infections, and malignancies that affect the bone marrow or lymphatic system.

Depending on the specific pattern of immunoglobulin levels, dysgammaglobulinemia can be further classified into different types, such as:

1. Hypogammaglobulinemia - a decrease in one or more classes of immunoglobulins
2. Agammaglobulinemia - a severe deficiency or absence of all classes of immunoglobulins
3. Hypergammaglobulinemia - an elevation of one or more classes of immunoglobulins

Dysgammaglobulinemia can lead to increased susceptibility to infections, autoimmune disorders, and other health complications. Therefore, it is essential to identify the underlying cause and provide appropriate treatment to manage the condition and prevent further complications.

Acquired Immunodeficiency Syndrome (AIDS) is a chronic, life-threatening condition caused by the Human Immunodeficiency Virus (HIV). AIDS is the most advanced stage of HIV infection, characterized by the significant weakening of the immune system, making the person more susceptible to various opportunistic infections and cancers.

The medical definition of AIDS includes specific criteria based on CD4+ T-cell count or the presence of certain opportunistic infections and diseases. According to the Centers for Disease Control and Prevention (CDC), a person with HIV is diagnosed with AIDS when:

1. The CD4+ T-cell count falls below 200 cells per cubic millimeter of blood (mm3) - a normal range is typically between 500 and 1,600 cells/mm3.
2. They develop one or more opportunistic infections or cancers that are indicative of advanced HIV disease, regardless of their CD4+ T-cell count.

Some examples of these opportunistic infections and cancers include:

* Pneumocystis pneumonia (PCP)
* Candidiasis (thrush) affecting the esophagus, trachea, or lungs
* Cryptococcal meningitis
* Toxoplasmosis of the brain
* Cytomegalovirus disease
* Kaposi's sarcoma
* Non-Hodgkin's lymphoma
* Invasive cervical cancer

It is important to note that with appropriate antiretroviral therapy (ART), people living with HIV can maintain their CD4+ T-cell counts, suppress viral replication, and prevent the progression to AIDS. Early diagnosis and consistent treatment are crucial for managing HIV and improving life expectancy and quality of life.

Hyper-IgM Immunodeficiency Syndrome, Type 1 (HIGM1) is a rare genetic disorder that affects the immune system. It is caused by mutations in the CD40 ligand gene (CD40L), which is located on the X chromosome. This condition primarily affects boys, as they have only one X chromosome.

In HIGM1, the immune system is unable to properly regulate the production of immunoglobulins, also known as antibodies. As a result, individuals with this disorder have low levels of IgG and IgA antibodies, but high levels of IgM antibodies. This leads to an increased susceptibility to bacterial infections, particularly those that cause pneumonia, meningitis, and sepsis.

People with HIGM1 may also have a higher risk of developing certain types of cancer, such as lymphoma. Additionally, they may experience autoimmune disorders, such as arthritis and vasculitis, due to the dysregulation of the immune system.

Symptoms of HIGM1 typically appear in early childhood and can include recurrent infections, chronic diarrhea, and failure to thrive. Treatment for HIGM1 usually involves regular infusions of immunoglobulin to help boost the individual's immune system and prevent infections. In some cases, bone marrow transplantation may be recommended as a curative treatment option.

Hypergammaglobulinemia is a medical condition characterized by an elevated level of gamma globulins (a type of immunoglobulins or antibodies) in the blood. These proteins are part of the body's immune system and help to fight off infections. However, when their levels become too high, it can indicate an underlying medical disorder.

There are several types of hypergammaglobulinemia, including:

1. Primary hypergammaglobulinemia: This is a rare condition that is present at birth or develops during early childhood. It is caused by genetic mutations that lead to overproduction of immunoglobulins.
2. Secondary hypergammaglobulinemia: This type is more common and is caused by an underlying medical condition, such as chronic infections, autoimmune disorders, or certain types of cancer.

Symptoms of hypergammaglobulinemia can vary depending on the cause and severity of the condition. They may include recurrent infections, fatigue, swelling of the lymph nodes, and joint pain. Treatment typically involves addressing the underlying cause of the condition, if possible, as well as managing symptoms and preventing complications.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Hyper-IgM Immunodeficiency Syndrome is a rare primary immunodeficiency disorder characterized by normal or elevated levels of IgM (Immunoglobulin M), but significantly reduced levels of other immunoglobulins such as IgG, IgA, and IgE. This condition results in an increased susceptibility to bacterial infections, particularly those that are recurrent or persistent, and can also lead to an increased risk of developing autoimmune disorders and cancer.

The disorder is caused by mutations in genes that are involved in the class-switch recombination process, which is necessary for the production of different types of immunoglobulins. The most common form of Hyper-IgM Immunodeficiency Syndrome is X-linked, meaning it is inherited through the X chromosome and affects mostly males. However, there are also autosomal recessive forms of the disorder that can affect both males and females.

Treatment for Hyper-IgM Immunodeficiency Syndrome typically involves replacement therapy with intravenous immunoglobulin (IVIG) to help prevent infections, as well as antibiotics to treat any existing infections. In some cases, bone marrow transplantation may be considered as a curative treatment option.

Immunologic deficiency syndromes refer to a group of disorders characterized by defective functioning of the immune system, leading to increased susceptibility to infections and malignancies. These deficiencies can be primary (genetic or congenital) or secondary (acquired due to environmental factors, medications, or diseases).

Primary immunodeficiency syndromes (PIDS) are caused by inherited genetic mutations that affect the development and function of immune cells, such as T cells, B cells, and phagocytes. Examples include severe combined immunodeficiency (SCID), common variable immunodeficiency (CVID), Wiskott-Aldrich syndrome, and X-linked agammaglobulinemia.

Secondary immunodeficiency syndromes can result from various factors, including:

1. HIV/AIDS: Human Immunodeficiency Virus infection leads to the depletion of CD4+ T cells, causing profound immune dysfunction and increased vulnerability to opportunistic infections and malignancies.
2. Medications: Certain medications, such as chemotherapy, immunosuppressive drugs, and long-term corticosteroid use, can impair immune function and increase infection risk.
3. Malnutrition: Deficiencies in essential nutrients like protein, vitamins, and minerals can weaken the immune system and make individuals more susceptible to infections.
4. Aging: The immune system naturally declines with age, leading to an increased incidence of infections and poorer vaccine responses in older adults.
5. Other medical conditions: Chronic diseases such as diabetes, cancer, and chronic kidney or liver disease can also compromise the immune system and contribute to immunodeficiency syndromes.

Immunologic deficiency syndromes require appropriate diagnosis and management strategies, which may include antimicrobial therapy, immunoglobulin replacement, hematopoietic stem cell transplantation, or targeted treatments for the underlying cause.

Immunoglobulin M (IgM) is a type of antibody that is primarily found in the blood and lymph fluid. It is the first antibody to be produced in response to an initial exposure to an antigen, making it an important part of the body's primary immune response. IgM antibodies are large molecules that are composed of five basic units, giving them a pentameric structure. They are primarily found on the surface of B cells as membrane-bound immunoglobulins (mlgM), where they function as receptors for antigens. Once an mlgM receptor binds to an antigen, it triggers the activation and differentiation of the B cell into a plasma cell that produces and secretes large amounts of soluble IgM antibodies.

IgM antibodies are particularly effective at agglutination (clumping) and complement activation, which makes them important in the early stages of an immune response to help clear pathogens from the bloodstream. However, they are not as stable or long-lived as other types of antibodies, such as IgG, and their levels tend to decline after the initial immune response has occurred.

In summary, Immunoglobulin M (IgM) is a type of antibody that plays a crucial role in the primary immune response to antigens by agglutination and complement activation. It is primarily found in the blood and lymph fluid, and it is produced by B cells after they are activated by an antigen.

I'm sorry for any confusion, but there seems to be a misunderstanding. Murine Acquired Immunodeficiency Syndrome (MAIDS) is not related to human medicine. It is a disease that affects mice and is caused by a retrovirus similar to the Human Immunodeficiency Virus (HIV). MAIDS is used as an animal model to study certain aspects of HIV infection and AIDS. The disease is characterized by immune system dysfunction, leading to susceptibility to various opportunistic infections and cancers, much like human AIDS. However, it's essential to clarify that MAIDS is not a human health concern.

CD40 ligand (CD40L or CD154) is a type II transmembrane protein and a member of the tumor necrosis factor (TNF) superfamily. It is primarily expressed on activated CD4+ T cells, but can also be found on other immune cells such as activated B cells, macrophages, and dendritic cells.

CD40 ligand binds to its receptor, CD40, which is mainly expressed on the surface of antigen-presenting cells (APCs) such as B cells, dendritic cells, and macrophages. The interaction between CD40L and CD40 plays a crucial role in the activation and regulation of the immune response.

CD40L-CD40 signaling is essential for T cell-dependent B cell activation, antibody production, and class switching. It also contributes to the activation and maturation of dendritic cells, promoting their ability to stimulate T cell responses. Dysregulation of CD40L-CD40 signaling has been implicated in various autoimmune diseases, transplant rejection, and cancer.

HIV-1 (Human Immunodeficiency Virus type 1) is a species of the retrovirus genus that causes acquired immunodeficiency syndrome (AIDS). It is primarily transmitted through sexual contact, exposure to infected blood or blood products, and from mother to child during pregnancy, childbirth, or breastfeeding. HIV-1 infects vital cells in the human immune system, such as CD4+ T cells, macrophages, and dendritic cells, leading to a decline in their numbers and weakening of the immune response over time. This results in the individual becoming susceptible to various opportunistic infections and cancers that ultimately cause death if left untreated. HIV-1 is the most prevalent form of HIV worldwide and has been identified as the causative agent of the global AIDS pandemic.

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissues, which are the proteins and chemicals in the body that provide structure and support for skin, bones, blood vessels, and other organs. People with EDS have stretching (elastic) skin and joints that are too loose (hypermobile). There are several types of EDS, each with its own set of symptoms and level of severity. Some of the more common types include:

* Classical EDS: This type is characterized by skin that can be stretched far beyond normal and bruises easily. Affected individuals may also have joints that dislocate easily.
* Hypermobile EDS: This type is marked by joint hypermobility, which can lead to frequent dislocations and subluxations (partial dislocations). Some people with this type of EDS also have Marfan syndrome-like features, such as long fingers and a curved spine.
* Vascular EDS: This type is caused by changes in the COL3A1 gene and is characterized by thin, fragile skin that tears or bruises easily. People with vascular EDS are at risk of serious complications, such as arterial rupture and organ perforation.
* Kyphoscoliosis EDS: This type is marked by severe kyphoscoliosis (a forward curvature of the spine) and joint laxity. Affected individuals may also have fragile skin that tears or bruises easily.

EDS is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the altered gene from either parent to develop the condition. However, some types of EDS are inherited in an autosomal recessive manner, which means that a person must inherit two copies of the altered gene (one from each parent) to develop the condition.

There is no cure for EDS, and treatment is focused on managing symptoms and preventing complications. This may include physical therapy to strengthen muscles and improve joint stability, bracing to support joints, and surgery to repair damaged tissues or organs.

Job Syndrome is a rare primary immunodeficiency disorder, also known as Hyper-IgE Syndrome (HIES). It is characterized by the triad of recurrent staphylococcal skin abscesses, recurrent pulmonary infections, and elevated serum IgE levels.

The condition was first described in 1966 by Dr. Angelo A. Pedrioli et al., in a patient with eczema, recurrent staphylococcal abscesses, and severe lung infections, whose name was later used to describe the syndrome (Job's Syndrome).

The clinical features of Job Syndrome include:

1. Recurrent skin abscesses and boils, often on the face, neck, and upper extremities.
2. Cold-stimulated erythema (cold-induced urticaria) and recurrent herpes simplex infections.
3. Recurrent pulmonary infections, such as pneumonia, bronchitis, and lung abscesses.
4. High levels of IgE antibodies in the blood (hyper-IgE).
5. Characteristic facial features, including a broad nasal bridge, deep-set eyes, and prognathism (protruding jaw).
6. Scoliosis, joint hypermobility, and connective tissue abnormalities.
7. Increased susceptibility to fungal infections, such as candidiasis.
8. Bone fractures and osteopenia.

The genetic basis of Job Syndrome is a mutation in the STAT3 gene, which encodes a transcription factor that regulates immune responses, cell growth, and differentiation. The diagnosis of Job Syndrome is based on clinical criteria and laboratory tests, including IgE levels and genetic testing for STAT3 mutations.

Treatment of Job Syndrome includes antibiotics for bacterial infections, antifungal agents for fungal infections, and prophylactic antibiotics to prevent recurrent infections. In addition, immunoglobulin replacement therapy may be used to boost the patient's immune system.

Job Syndrome is a rare genetic disorder that affects multiple organ systems, including the immune system, bones, and connective tissue. Early diagnosis and treatment can improve outcomes and quality of life for affected individuals.

HIV (Human Immunodeficiency Virus) infection is a viral illness that progressively attacks and weakens the immune system, making individuals more susceptible to other infections and diseases. The virus primarily infects CD4+ T cells, a type of white blood cell essential for fighting off infections. Over time, as the number of these immune cells declines, the body becomes increasingly vulnerable to opportunistic infections and cancers.

HIV infection has three stages:

1. Acute HIV infection: This is the initial stage that occurs within 2-4 weeks after exposure to the virus. During this period, individuals may experience flu-like symptoms such as fever, fatigue, rash, swollen glands, and muscle aches. The virus replicates rapidly, and the viral load in the body is very high.
2. Chronic HIV infection (Clinical latency): This stage follows the acute infection and can last several years if left untreated. Although individuals may not show any symptoms during this phase, the virus continues to replicate at low levels, and the immune system gradually weakens. The viral load remains relatively stable, but the number of CD4+ T cells declines over time.
3. AIDS (Acquired Immunodeficiency Syndrome): This is the most advanced stage of HIV infection, characterized by a severely damaged immune system and numerous opportunistic infections or cancers. At this stage, the CD4+ T cell count drops below 200 cells/mm3 of blood.

It's important to note that with proper antiretroviral therapy (ART), individuals with HIV infection can effectively manage the virus, maintain a healthy immune system, and significantly reduce the risk of transmission to others. Early diagnosis and treatment are crucial for improving long-term health outcomes and reducing the spread of HIV.

Usher Syndromes are a group of genetic disorders that are characterized by hearing loss and visual impairment due to retinitis pigmentosa. They are the most common cause of deafblindness in developed countries. There are three types of Usher Syndromes (Type 1, Type 2, and Type 3) which differ in the age of onset, severity, and progression of hearing loss and vision loss.

Type 1 Usher Syndrome is the most severe form, with profound deafness present at birth or within the first year of life, and retinitis pigmentosa leading to significant vision loss by the teenage years. Type 2 Usher Syndrome is characterized by moderate to severe hearing loss beginning in childhood and vision loss due to retinitis pigmentosa starting in adolescence or early adulthood. Type 3 Usher Syndrome has progressive hearing loss that begins in adolescence and vision loss due to retinitis pigmentosa starting in the third decade of life.

The diagnosis of Usher Syndromes is based on a combination of clinical examination, audiological evaluation, and genetic testing. There is currently no cure for Usher Syndromes, but various assistive devices and therapies can help manage the symptoms and improve quality of life.

Orofaciodigital syndromes (OFDS) are a group of rare genetic disorders that primarily affect the development of the face, mouth, and digits. The term "orofaciodigital" describes the specific areas of the body that are impacted: oro (mouth), facio (face), and digital (fingers and toes).

There are several types of OFDS, each with its own set of symptoms and genetic cause. Some common features across various types of OFDS include:

1. Oral manifestations: These may include cleft lip and/or palate, tongue abnormalities, such as a lobulated or bifid tongue, and dental anomalies.
2. Facial manifestations: These can range from mild to severe and may include hypertelorism (widely spaced eyes), broad nasal bridge, low-set ears, and a thin upper lip.
3. Digital manifestations: Abnormalities of the fingers and toes may include brachydactyly (shortened digits), clinodactyily (curved digits), syndactyly (fused digits), or extra digits (polydactyly). Nail abnormalities might also be present.

The different types of OFDS are caused by mutations in various genes, such as OFD1, CCDC8, and TMEM216. The specific genetic cause determines the type of OFDS and its associated symptoms.

It is essential to consult with a medical professional or genetic counselor for an accurate diagnosis and personalized management plan if you suspect or have been diagnosed with an orofaciodigital syndrome.

Simian Immunodeficiency Virus (SIV) is a retrovirus that primarily infects African non-human primates and is the direct ancestor of Human Immunodeficiency Virus type 2 (HIV-2). It is similar to HIV in its structure, replication strategy, and ability to cause an immunodeficiency disease in its host. SIV infection in its natural hosts is typically asymptomatic and non-lethal, but it can cause AIDS-like symptoms in other primate species. Research on SIV in its natural hosts has provided valuable insights into the mechanisms of HIV pathogenesis and potential strategies for prevention and treatment of AIDS.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

HIV (Human Immunodeficiency Virus) is a species of lentivirus (a subgroup of retrovirus) that causes HIV infection and over time, HIV infection can lead to AIDS (Acquired Immunodeficiency Syndrome). This virus attacks the immune system, specifically the CD4 cells, also known as T cells, which are a type of white blood cell that helps coordinate the body's immune response. As HIV destroys these cells, the body becomes more vulnerable to other infections and diseases. It is primarily spread through bodily fluids like blood, semen, vaginal fluids, and breast milk.

It's important to note that while there is no cure for HIV, with proper medical care, HIV can be controlled. Treatment for HIV is called antiretroviral therapy (ART). If taken as prescribed, this medicine reduces the amount of HIV in the body to a very low level, which keeps the immune system working and prevents illness. This treatment also greatly reduces the risk of transmission.

Polyendocrinopathies, autoimmune refers to a group of disorders that involve malfunction of multiple endocrine glands, caused by the immune system mistakenly attacking and damaging these glands. The endocrine glands are responsible for producing hormones that regulate various functions in the body.

There are several types of autoimmune polyendocrinopathies, including:

1. Autoimmune Polyendocrine Syndrome Type 1 (APS-1): Also known as Autoimmune Polyglandular Syndrome Type 1 or APECED, this is a rare inherited disorder that typically affects multiple endocrine glands and other organs. It is caused by mutations in the autoimmune regulator (AIRE) gene.
2. Autoimmune Polyendocrine Syndrome Type 2 (APS-2): Also known as Schmidt's syndrome, this disorder typically involves the adrenal glands, thyroid gland, and/or insulin-producing cells in the pancreas. It is more common than APS-1 and often affects middle-aged women.
3. Autoimmune Polyendocrine Syndrome Type 3 (APS-3): This disorder involves the presence of autoimmune Addison's disease, with or without other autoimmune disorders such as thyroid disease, type 1 diabetes, or vitiligo.
4. Autoimmune Polyendocrine Syndrome Type 4 (APS-4): This is a catch-all category for individuals who have multiple autoimmune endocrine disorders that do not fit into the other types of APS.

Symptoms of autoimmune polyendocrinopathies can vary widely depending on which glands are affected and the severity of the damage. Treatment typically involves replacing the hormones that are no longer being produced in sufficient quantities, as well as managing any underlying immune system dysfunction.

AIDS-related opportunistic infections (AROIs) are infections that occur more frequently or are more severe in people with weakened immune systems, such as those with advanced HIV infection or AIDS. These infections take advantage of a weakened immune system and can affect various organs and systems in the body.

Common examples of AROIs include:

1. Pneumocystis pneumonia (PCP), caused by the fungus Pneumocystis jirovecii
2. Mycobacterium avium complex (MAC) infection, caused by a type of bacteria called mycobacteria
3. Candidiasis, a fungal infection that can affect various parts of the body, including the mouth, esophagus, and genitals
4. Toxoplasmosis, caused by the parasite Toxoplasma gondii
5. Cryptococcosis, a fungal infection that affects the lungs and central nervous system
6. Cytomegalovirus (CMV) infection, caused by a type of herpes virus
7. Tuberculosis (TB), caused by the bacterium Mycobacterium tuberculosis
8. Cryptosporidiosis, a parasitic infection that affects the intestines
9. Progressive multifocal leukoencephalopathy (PML), a viral infection that affects the brain

Preventing and treating AROIs is an important part of managing HIV/AIDS, as they can cause significant illness and even death in people with weakened immune systems. Antiretroviral therapy (ART) is used to treat HIV infection and prevent the progression of HIV to AIDS, which can help reduce the risk of opportunistic infections. In addition, medications to prevent specific opportunistic infections may be prescribed for people with advanced HIV or AIDS.

Simian Acquired Immunodeficiency Syndrome (SAIDS) is not recognized as a medical condition in humans. However, it is a disease that affects non-human primates like African green monkeys and sooty mangabeys. SAIDS is caused by the Simian Immunodeficiency Virus (SIV), which is similar to the Human Immunodeficiency Virus (HIV) that leads to Acquired Immunodeficiency Syndrome (AIDS) in humans.

In non-human primates, SIV infection can lead to a severe immunodeficiency state, characterized by the destruction of CD4+ T cells and impaired immune function, making the host susceptible to various opportunistic infections and cancers. However, it is important to note that most non-human primates infected with SIV do not develop SAIDS spontaneously, unlike humans who acquire HIV infection.

In summary, Simian Acquired Immunodeficiency Syndrome (SAIDS) is a disease affecting non-human primates due to Simian Immunodeficiency Virus (SIV) infection, characterized by immunodeficiency and susceptibility to opportunistic infections and cancers. It should not be confused with Human Immunodeficiency Virus Infection and Acquired Immunodeficiency Syndrome (HIV/AIDS) in humans.

Reflex Sympathetic Dystrophy (RSD), also known as Complex Regional Pain Syndrome (CRPS), is a chronic pain condition that most often affects a limb after an injury or trauma. It is characterized by prolonged or excessive pain and sensitivity, along with changes in skin color, temperature, and swelling.

The symptoms of RSD/CRPS are thought to be caused by an overactive sympathetic nervous system, which controls involuntary bodily functions such as heart rate, blood pressure, and sweating. In RSD/CRPS, the sympathetic nerves are believed to send incorrect signals to the brain, causing it to perceive intense pain even in the absence of any actual tissue damage.

RSD/CRPS can be classified into two types: Type 1, which occurs after an injury or trauma that did not directly damage the nerves, and Type 2, which occurs after a distinct nerve injury. The symptoms of both types are similar, but Type 2 is typically more severe and may involve more widespread nerve damage.

Treatment for RSD/CRPS usually involves a combination of medications, physical therapy, and other therapies such as spinal cord stimulation or sympathetic nerve blocks. Early diagnosis and treatment can help improve outcomes and reduce the risk of long-term complications.

AIDS-Related Complex (ARC) is a term that was used to describe a group of symptoms and conditions that occurred in people who were infected with the Human Immunodeficiency Virus (HIV), but had not yet developed full-blown AIDS. It was characterized by the presence of certain opportunistic infections or malignancies, as well as constitutional symptoms such as fever, night sweats, and weight loss.

The term ARC is no longer commonly used in clinical practice, since it has been largely replaced by the concept of "stages of HIV infection" based on CD4+ T-cell count and viral load. However, historically, the diagnosis of ARC required the presence of certain clinical conditions, such as:

* A CD4+ T-cell count between 200 and 500 cells/mm3
* The presence of constitutional symptoms (such as fever, night sweats, or weight loss)
* The presence of one or more opportunistic infections or malignancies (such as Pneumocystis pneumonia, oral candidiasis, or Kaposi's sarcoma)

It is important to note that the diagnosis and management of HIV infection have evolved significantly over time, and people with HIV can now live long and healthy lives with appropriate medical care. If you have any concerns about HIV or AIDS, it is important to speak with a healthcare provider for accurate information and guidance.

CD40 is a type of protein known as a tumor necrosis factor receptor that is found on the surface of various cells in the body, including B cells, dendritic cells, and activated T cells. It plays an important role in the immune system by interacting with another protein called CD154 (also known as CD40 ligand) to activate immune responses.

CD40 antigens are molecules that can stimulate an immune response when introduced into the body because they are recognized as foreign substances by the immune system. They may be used in vaccines or other immunotherapies to induce an immune response against specific targets, such as cancer cells or infectious agents.

CD40 antigens can also be found on some types of tumor cells, and activating CD40 with CD154 has been shown to enhance the anti-tumor immune response in preclinical models. Therefore, CD40 agonists are being investigated as potential cancer therapies.

In summary, CD40 antigens are proteins that can stimulate an immune response and are involved in activating immune cells. They have potential applications in vaccines, immunotherapies, and cancer treatments.

Waardenburg Syndrome is a genetic disorder that affects the development of melanin, a pigment responsible for hair, skin, and eye color. Named after the Dutch ophthalmologist Petrus Waardenburg who first described it in 1907, this syndrome is characterized by distinctive physical features and hearing loss.

There are four types of Waardenburg Syldrome (WS1, WS2, WS3, and WS4), each with varying degrees of symptoms. Common features include:

1. Differential coloring of the hair, skin, and eyes (poliosis, vitiligo, and heterochromia)
2. Distinctive facial features (wide-set eyes, broad nasal root, and a high arched or cleft palate)
3. Hearing loss, which can be unilateral (one-sided) or bilateral (both-sided), conductive, sensorineural, or mixed
4. Pigmentary changes in the iris, such as different colors between the eyes or within one eye
5. Sometimes, musculoskeletal abnormalities and/or developmental delays

WS1 and WS2 are more common than WS3 and WS4. The genetic causes of Waardenburg Syndrome involve mutations in several different genes associated with melanin production and transport. These include PAX3, MITF, SNAI2, EDN3, and EDNRB.

Diagnosis is typically based on clinical findings, including physical features and hearing tests. Genetic testing can confirm the diagnosis and help determine the specific type of Waardenburg Syndrome. Treatment usually involves addressing individual symptoms, such as using hearing aids or cochlear implants for hearing loss and managing any skin or eye concerns.

Feline Acquired Immunodeficiency Syndrome (FAIDS) is a progressive immune disorder in cats caused by infection with the feline immunodeficiency virus (FIV). The virus attacks and weakens the cat's immune system, making it difficult for the animal to fight off other infections and diseases.

The initial infection with FIV may cause symptoms such as fever, swollen lymph nodes, and loss of appetite. However, many cats do not show any signs of illness for years after the initial infection. As the immune system becomes weaker over time, the cat becomes more susceptible to various secondary infections, cancers, and other diseases. Common symptoms in advanced stages of FAIDS include weight loss, chronic or recurring infections (such as respiratory, skin, or gastrointestinal infections), dental disease, anemia, and neurological disorders.

FAIDS is most commonly spread through bite wounds from infected cats, as the virus is present in their saliva. It can also be transmitted through sexual contact or from mother to kitten during pregnancy or nursing. There is no cure for FAIDS, but antiretroviral therapy (ART) can help manage the infection and slow down its progression. Supportive care, such as proper nutrition, regular veterinary check-ups, and monitoring for secondary infections, is essential for maintaining the cat's quality of life.

It is important to note that FIV is species-specific and cannot be transmitted from cats to humans or other animals, except non-human primates.

Feline Immunodeficiency Virus (FIV) is a lentivirus that primarily affects felines, including domestic cats and wild cats. It is the feline equivalent of Human Immunodeficiency Virus (HIV). The virus attacks the immune system, specifically the CD4+ T-cells, leading to a decline in the immune function over time.

This makes the infected cat more susceptible to various secondary infections and diseases. It is usually transmitted through bite wounds from infected cats during fighting or mating. Mother to offspring transmission can also occur, either in utero, during birth, or through nursing.

There is no cure for FIV, but antiretroviral therapy can help manage the disease and improve the quality of life for infected cats. It's important to note that while FIV-positive cats can live normal lives for many years, they should be kept indoors to prevent transmission to other cats and to protect them from opportunistic infections.

Crigler-Najjar Syndrome is a rare inherited genetic disorder that affects the metabolism of bilirubin, a yellow pigment produced when hemoglobin breaks down. This condition is characterized by high levels of unconjugated bilirubin in the blood, which can lead to jaundice, kernicterus, and neurological damage if left untreated.

There are two types of Crigler-Najjar Syndrome: Type I and Type II.

Type I is the more severe form, and it is caused by a mutation in the UGT1A1 gene, which encodes for an enzyme responsible for conjugating bilirubin. People with this type of Crigler-Najjar Syndrome have little to no functional enzyme activity, leading to very high levels of unconjugated bilirubin in the blood. This form is usually diagnosed in infancy and requires regular phototherapy or a liver transplant to prevent neurological damage.

Type II is a milder form of the disorder, caused by a mutation that results in reduced enzyme activity but not complete loss of function. People with this type of Crigler-Najjar Syndrome usually have milder symptoms and may not require regular phototherapy or a liver transplant, although they may still be at risk for neurological damage if their bilirubin levels become too high.

Both types of Crigler-Najjar Syndrome are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Medical definitions are often avoided in favor of more objective language when discussing personal characteristics or identities, such as sexual orientation. This is because sexual orientation is not considered a medical condition or disorder, but rather a natural part of human diversity. The American Psychological Association defines sexual orientation as "an enduring emotional, romantic, sexual, or affectional attraction to another person." It can be distinguished into different categories, including heterosexuality (attraction to individuals of the other gender), bisexuality (attraction to individuals of either gender), and homosexuality (attraction to individuals of the same gender).

It's important to note that a person's sexual orientation is not considered a choice or something that can be changed through willpower or therapy. It is a deeply ingrained aspect of a person's identity, and it is protected under laws and regulations in many countries as a fundamental human right.

Severe Combined Immunodeficiency (SCID) is a group of rare genetic disorders characterized by deficient or absent immune responses. It results from mutations in different genes involved in the development and function of T lymphocytes, B lymphocytes, or both, leading to a severe impairment in cell-mediated and humoral immunity.

Infants with SCID are extremely vulnerable to infections, which can be life-threatening. Common symptoms include chronic diarrhea, failure to thrive, recurrent pneumonia, and persistent candidiasis (thrush). If left untreated, it can lead to severe disability or death within the first two years of life. Treatment typically involves bone marrow transplantation or gene therapy to restore immune function.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

T-lymphocytes, also known as T-cells, are a type of white blood cell that plays a key role in the adaptive immune system's response to infection. They are produced in the bone marrow and mature in the thymus gland. There are several different types of T-cells, including CD4+ helper T-cells, CD8+ cytotoxic T-cells, and regulatory T-cells (Tregs).

CD4+ helper T-cells assist in activating other immune cells, such as B-lymphocytes and macrophages. They also produce cytokines, which are signaling molecules that help coordinate the immune response. CD8+ cytotoxic T-cells directly kill infected cells by releasing toxic substances. Regulatory T-cells help maintain immune tolerance and prevent autoimmune diseases by suppressing the activity of other immune cells.

T-lymphocytes are important in the immune response to viral infections, cancer, and other diseases. Dysfunction or depletion of T-cells can lead to immunodeficiency and increased susceptibility to infections. On the other hand, an overactive T-cell response can contribute to autoimmune diseases and chronic inflammation.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Mucopolysaccharidosis III, also known as Sanfilippo syndrome, is a genetic disorder caused by the deficiency of specific enzymes needed to break down complex sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides. This results in an accumulation of these substances in various tissues and organs, leading to progressive damage.

There are four main types of Mucopolysaccharidosis III (A, B, C, and D), each caused by a deficiency in one of the following enzymes: heparan N-sulfatase (type A), alpha-N-acetylglucosaminidase (type B), acetyl-CoAlpha-glucosaminide acetyltransferase (type C), or N-acetylglucosamine 6-sulfatase (type D).

The symptoms of Mucopolysaccharidosis III typically become apparent between the ages of 2 and 6, and may include developmental delays, hyperactivity, behavioral problems, sleep disturbances, coarse facial features, hirsutism, hepatosplenomegaly (enlarged liver and spleen), and joint stiffness. Over time, individuals with Mucopolysaccharidosis III may experience a decline in cognitive abilities, loss of previously acquired skills, and mobility issues.

Currently, there is no cure for Mucopolysaccharidosis III, and treatment is focused on managing the symptoms and improving quality of life. Enzyme replacement therapy, gene therapy, and stem cell transplantation are some of the experimental treatments being investigated for this condition.

Hermanski-Pudlak Syndrome (HPS) is a rare genetic disorder characterized by the triad of albinism, bleeding disorders, and lysosomal storage disease. It is caused by mutations in any one of several genes involved in biogenesis of lysosome-related organelles (LROs), such as melanosomes in melanocytes, platelet dense granules, and lung lamellar bodies.

The albinism in HPS results from abnormal melanosome biogenesis, leading to decreased pigmentation in the skin, hair, and eyes. The bleeding disorder is due to defective platelet dense granules, which are necessary for normal clotting function. This can result in prolonged bleeding times and easy bruising.

The lysosomal storage disease component of HPS is characterized by the accumulation of ceroid lipofuscin within LROs, leading to progressive damage to affected tissues. The most common form of HPS (HPS-1) also involves pulmonary fibrosis, which can lead to respiratory failure and death in the third or fourth decade of life.

There are currently seven known subtypes of HPS, each caused by mutations in different genes involved in LRO biogenesis. The clinical features and severity of HPS can vary widely between subtypes and even within families with the same genetic mutation.

HIV seropositivity is a term used to describe a positive result on an HIV antibody test. This means that the individual has developed antibodies against the Human Immunodeficiency Virus (HIV), indicating that they have been infected with the virus. However, it's important to note that this does not necessarily mean that the person has AIDS, as there can be a long period between HIV infection and the development of AIDS.

Zidovudine is defined as an antiretroviral medication used to prevent and treat HIV/AIDS. It is a reverse transcriptase inhibitor (NRTI) that works by blocking the action of the reverse transcriptase enzyme, thereby preventing the virus from replicating in human cells.

Zidovudine is often used in combination with other antiretroviral drugs as part of highly active antiretroviral therapy (HAART) to manage HIV infection and reduce the risk of transmission. It is also used to prevent mother-to-child transmission of HIV during pregnancy, labor, delivery, and breastfeeding.

The most common side effects of zidovudine include headache, nausea, vomiting, and muscle pain. Prolonged use of zidovudine can lead to serious side effects such as anemia, neutropenia, and lactic acidosis. Therefore, regular monitoring of blood counts and liver function tests is necessary during treatment with this medication.

Anti-HIV agents are a class of medications specifically designed to treat HIV (Human Immunodeficiency Virus) infection. These drugs work by interfering with various stages of the HIV replication cycle, preventing the virus from infecting and killing CD4+ T cells, which are crucial for maintaining a healthy immune system.

There are several classes of anti-HIV agents, including:

1. Nucleoside/Nucleotide Reverse Transcriptase Inhibitors (NRTIs): These drugs act as faulty building blocks that the virus incorporates into its genetic material, causing the replication process to halt. Examples include zidovudine (AZT), lamivudine (3TC), and tenofovir.
2. Non-nucleoside Reverse Transcriptase Inhibitors (NNRTIs): These medications bind directly to the reverse transcriptase enzyme, altering its shape and preventing it from functioning properly. Examples include efavirenz, nevirapine, and rilpivirine.
3. Protease Inhibitors (PIs): These drugs target the protease enzyme, which is responsible for cleaving viral polyproteins into functional components. By inhibiting this enzyme, PIs prevent the formation of mature, infectious virus particles. Examples include atazanavir, darunavir, and lopinavir.
4. Integrase Strand Transfer Inhibitors (INSTIs): These medications block the integrase enzyme, which is responsible for inserting the viral genetic material into the host cell's DNA. By inhibiting this step, INSTIs prevent the virus from establishing a permanent infection within the host cell. Examples include raltegravir, dolutegravir, and bictegravir.
5. Fusion/Entry Inhibitors: These drugs target different steps of the viral entry process, preventing HIV from infecting CD4+ T cells. Examples include enfuvirtide (T-20), maraviroc, and ibalizumab.
6. Post-Attachment Inhibitors: This class of medications prevents the virus from attaching to the host cell's receptors, thereby inhibiting infection. Currently, there is only one approved post-attachment inhibitor, fostemsavir.

Combination therapy using multiple classes of antiretroviral drugs has been shown to effectively suppress viral replication and improve clinical outcomes in people living with HIV. Regular adherence to the prescribed treatment regimen is crucial for maintaining an undetectable viral load and reducing the risk of transmission.

Common Variable Immunodeficiency (CVID) is a type of primary immunodeficiency disorder characterized by reduced levels of immunoglobulins (also known as antibodies) in the blood, which makes an individual more susceptible to infections. The term "common" refers to its prevalence compared to other types of immunodeficiencies, and "variable" indicates the variability in the severity and types of symptoms among affected individuals.

Immunoglobulins are proteins produced by the immune system to help fight off infections caused by bacteria, viruses, and other pathogens. In CVID, there is a deficiency in the production or function of these immunoglobulins, particularly IgG, IgA, and/or IgM. This results in recurrent infections, chronic inflammation, and an increased risk of developing autoimmune disorders and cancer.

Symptoms of CVID can include:

1. Recurrent sinus, ear, and lung infections
2. Gastrointestinal issues, such as diarrhea, bloating, and malabsorption
3. Autoimmune disorders, like rheumatoid arthritis, lupus, or inflammatory bowel disease
4. Increased risk of certain cancers, particularly lymphomas
5. Fatigue and poor growth in children
6. Delayed puberty in adolescents
7. Lung damage due to recurrent infections
8. Poor response to vaccinations

The exact cause of CVID is not fully understood, but it is believed to be related to genetic factors. In some cases, a family history of immunodeficiency disorders may be present. Diagnosis typically involves blood tests to measure immunoglobulin levels and other immune system components, as well as genetic testing to identify any known genetic mutations associated with CVID. Treatment usually consists of regular infusions of immunoglobulins to replace the missing antibodies and help prevent infections.

A CD4 lymphocyte count is a laboratory test that measures the number of CD4 T-cells (also known as CD4+ T-cells or helper T-cells) in a sample of blood. CD4 cells are a type of white blood cell that plays a crucial role in the body's immune response, particularly in fighting off infections caused by viruses and other pathogens.

CD4 cells express a protein on their surface called the CD4 receptor, which is used by human immunodeficiency virus (HIV) to infect and destroy these cells. As a result, people with HIV infection or AIDS often have low CD4 lymphocyte counts, which can make them more susceptible to opportunistic infections and other complications.

A normal CD4 lymphocyte count ranges from 500 to 1,200 cells per cubic millimeter of blood (cells/mm3) in healthy adults. A lower than normal CD4 count is often used as a marker for the progression of HIV infection and the development of AIDS. CD4 counts are typically monitored over time to assess the effectiveness of antiretroviral therapy (ART) and to guide clinical decision-making regarding the need for additional interventions, such as prophylaxis against opportunistic infections.

"Pneumonia, Pneumocystis" is more commonly referred to as "Pneumocystis pneumonia (PCP)." It is a type of pneumonia caused by the microorganism Pneumocystis jirovecii. This organism was previously classified as a protozoan but is now considered a fungus.

PCP is an opportunistic infection, which means that it mainly affects people with weakened immune systems, such as those with HIV/AIDS, cancer, transplant recipients, or people taking immunosuppressive medications. The symptoms of PCP can include cough, shortness of breath, fever, and difficulty exercising. It is a serious infection that requires prompt medical treatment, typically with antibiotics.

It's important to note that PCP is not the same as pneumococcal pneumonia, which is caused by the bacterium Streptococcus pneumoniae. While both conditions are types of pneumonia, they are caused by different organisms and require different treatments.

HIV antibodies are proteins produced by the immune system in response to the presence of HIV (Human Immunodeficiency Virus) in the body. These antibodies are designed to recognize and bind to specific parts of the virus, known as antigens, in order to neutralize or eliminate it.

There are several types of HIV antibodies that can be produced, including:

1. Anti-HIV-1 and anti-HIV-2 antibodies: These are antibodies that specifically target the HIV-1 and HIV-2 viruses, respectively.
2. Antibodies to HIV envelope proteins: These antibodies recognize and bind to the outer envelope of the virus, which is covered in glycoprotein spikes that allow the virus to attach to and enter host cells.
3. Antibodies to HIV core proteins: These antibodies recognize and bind to the interior of the viral particle, where the genetic material of the virus is housed.

The presence of HIV antibodies in the blood can be detected through a variety of tests, including enzyme-linked immunosorbent assay (ELISA) and Western blot. A positive test result for HIV antibodies indicates that an individual has been infected with the virus, although it may take several weeks or months after infection for the antibodies to become detectable.

Congenital Disorders of Glycosylation (CDG) are a group of genetic disorders that affect the body's ability to add sugar molecules (glycans) to proteins and lipids. This process, known as glycosylation, is essential for the proper functioning of many cellular processes, including protein folding, trafficking, and signaling.

CDG can be caused by mutations in genes that are involved in the synthesis or transport of glycans. These genetic defects can lead to abnormal glycosylation patterns, which can result in a wide range of clinical manifestations, including developmental delay, intellectual disability, seizures, movement disorders, hypotonia, coagulation abnormalities, and multi-organ involvement.

CDG are typically classified into two main types: type I CDG, which involves defects in the synthesis of the lipid-linked oligosaccharide precursor used for N-glycosylation, and type II CDG, which involves defects in the processing and transfer of glycans to proteins.

The diagnosis of CDG is often based on clinical features, laboratory tests, and genetic analysis. Treatment is typically supportive and multidisciplinary, focusing on addressing specific symptoms and improving quality of life. In some cases, dietary modifications or supplementation with mannose or other sugars may be beneficial.

Virus replication is the process by which a virus produces copies or reproduces itself inside a host cell. This involves several steps:

1. Attachment: The virus attaches to a specific receptor on the surface of the host cell.
2. Penetration: The viral genetic material enters the host cell, either by invagination of the cell membrane or endocytosis.
3. Uncoating: The viral genetic material is released from its protective coat (capsid) inside the host cell.
4. Replication: The viral genetic material uses the host cell's machinery to produce new viral components, such as proteins and nucleic acids.
5. Assembly: The newly synthesized viral components are assembled into new virus particles.
6. Release: The newly formed viruses are released from the host cell, often through lysis (breaking) of the cell membrane or by budding off the cell membrane.

The specific mechanisms and details of virus replication can vary depending on the type of virus. Some viruses, such as DNA viruses, use the host cell's DNA polymerase to replicate their genetic material, while others, such as RNA viruses, use their own RNA-dependent RNA polymerase or reverse transcriptase enzymes. Understanding the process of virus replication is important for developing antiviral therapies and vaccines.

AIDS-related lymphoma (ARL) is a type of cancer that affects the lymphatic system and is associated with acquired immunodeficiency syndrome (AIDS). It is caused by the infection of the lymphocytes, a type of white blood cell, with the human immunodeficiency virus (HIV), which weakens the immune system and makes individuals more susceptible to developing lymphoma.

There are two main types of AIDS-related lymphomas: diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL). DLBCL is the most common type and tends to grow rapidly, while BL is a more aggressive form that can also spread quickly.

Symptoms of AIDS-related lymphoma may include swollen lymph nodes, fever, night sweats, fatigue, weight loss, and decreased appetite. Diagnosis typically involves a biopsy of the affected lymph node or other tissue, followed by various imaging tests to determine the extent of the disease.

Treatment for AIDS-related lymphoma usually involves a combination of chemotherapy, radiation therapy, and/or immunotherapy, along with antiretroviral therapy (ART) to manage HIV infection. The prognosis for ARL varies depending on several factors, including the type and stage of the disease, the patient's overall health, and their response to treatment.

The "tat" gene in the Human Immunodeficiency Virus (HIV) produces the Tat protein, which is a regulatory protein that plays a crucial role in the replication of the virus. The Tat protein functions by enhancing the transcription of the viral genome, increasing the production of viral RNA and ultimately leading to an increase in the production of new virus particles. This protein is essential for the efficient replication of HIV and is a target for potential antiretroviral therapies.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive genetic disorder that affects the metabolism of cholesterol and other essential isoprenoids. It is caused by mutations in the MVK gene, which provides instructions for making the enzyme mevalonate kinase.

This enzyme plays a critical role in the production of isoprenoids, including cholesterol, coenzyme Q10, and dolichols, which are essential for various cellular functions such as membrane stability, protein prenylation, and glycosylation. In MKD, the deficiency of mevalonate kinase leads to an accumulation of its substrate, mevalonic acid, and a decrease in isoprenoid production.

MKD has two clinical manifestations: hyperimmunoglobulin D syndrome (HIDS) and mevalonic aciduria (MA). HIDS is the milder form of the disorder, characterized by recurrent fever episodes, gastrointestinal symptoms, rash, lymphadenopathy, and joint pain. MA is the severe form of MKD, which presents with developmental delay, neurological impairment, cataracts, failure to thrive, and recurrent infections. Both forms of MKD are associated with increased levels of mevalonic acid in body fluids, including urine and blood.

The diagnosis of MKD is based on clinical features, biochemical markers, and genetic testing. Treatment options for MKD include anti-inflammatory medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and biologic agents such as anakinra and canakinumab, which target the interleukin-1 (IL-1) pathway. In some cases, dietary modifications and supplementation with coenzyme Q10 may also be beneficial.

HIV antigens refer to the proteins present on the surface or within the human immunodeficiency virus (HIV), which can stimulate an immune response in the infected individual. These antigens are recognized by the host's immune system, specifically by CD4+ T cells and antibodies, leading to their activation and production. Two significant HIV antigens are the HIV-1 p24 antigen and the gp120/gp41 envelope proteins. The p24 antigen is a capsid protein found within the viral particle, while the gp120/gp41 complex forms the viral envelope and facilitates viral entry into host cells. Detection of HIV antigens in clinical settings, such as in the ELISA or Western blot tests, helps diagnose HIV infection and monitor disease progression.

Antiretroviral Therapy, Highly Active (HAART) is a medical treatment regimen used to manage HIV infection. It involves the combination of three or more antiretroviral drugs from at least two different classes, aiming to maximally suppress viral replication and prevent the development of drug resistance. The goal of HAART is to reduce the amount of HIV in the body to undetectable levels, preserve immune function, and improve quality of life for people living with HIV. Commonly used antiretroviral classes include nucleoside/nucleotide reverse transcriptase inhibitors (NRTIs), non-nucleoside reverse transcriptase inhibitors (NNRTIs), protease inhibitors (PIs), integrase strand transfer inhibitors (INSTIs), and fusion inhibitors.

HIV-2 (Human Immunodeficiency Virus type 2) is a retrovirus that infects humans and can lead to the development of AIDS (Acquired Immunodeficiency Syndrome). It is closely related to HIV-1, which is the virus more commonly associated with AIDS worldwide. However, HIV-2 is primarily found in West Africa and is less efficiently transmitted than HIV-1, meaning it generally takes longer for the infection to progress to AIDS.

Like HIV-1, HIV-2 infects CD4+ T cells, a type of white blood cell that plays a central role in the immune response. Over time, the progressive loss of these cells weakens the immune system and leaves the individual susceptible to opportunistic infections and cancers.

While there are similarities between HIV-1 and HIV-2, there are also differences. For example, HIV-2 is less pathogenic than HIV-1, meaning it generally progresses more slowly and causes less severe disease. Additionally, HIV-2 is less responsive to some antiretroviral drugs used to treat HIV-1 infection.

It's important to note that both HIV-1 and HIV-2 can be transmitted through sexual contact, sharing of needles, and from mother to child during pregnancy, childbirth, or breastfeeding. Accurate diagnosis and appropriate medical care are crucial for managing either type of HIV infection and preventing its transmission to others.

Deltaretroviruses are a genus of retroviruses that include human T-lymphotropic virus (HTLV) types 1 and 2, bovine leukemia virus (BLV), and simian T-lymphotropic viruses. These viruses are characterized by their ability to cause persistent infections and can lead to the development of various diseases such as adult T-cell leukemia/lymphoma (ATLL) and tropical spastic paraparesis/HTLV-associated myelopathy (TSP/HAM).

The genome of deltaretroviruses contains two copies of single-stranded RNA, which are reverse transcribed into double-stranded DNA during the replication process. The viral DNA is then integrated into the host cell's genome, leading to a lifelong infection.

Deltaretroviruses primarily infect CD4+ T cells and other immune cells, and transmission typically occurs through bodily fluids such as breast milk, blood, and sexual contact. Prevention measures include avoiding high-risk behaviors, screening blood products, and implementing strict infection control practices in healthcare settings.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

HIV Envelope Protein gp120 is a glycoprotein that is a major component of the outer envelope of the Human Immunodeficiency Virus (HIV). It plays a crucial role in the viral infection process. The "gp" stands for glycoprotein.

The gp120 protein is responsible for binding to CD4 receptors on the surface of human immune cells, particularly T-helper cells or CD4+ cells. This binding initiates the fusion process that allows the virus to enter and infect the cell.

After attachment, a series of conformational changes occur in the gp120 and another envelope protein, gp41, leading to the formation of a bridge between the viral and cell membranes, which ultimately results in the virus entering the host cell.

The gp120 protein is also one of the primary targets for HIV vaccine design due to its critical role in the infection process and its surface location, making it accessible to the immune system. However, its high variability and ability to evade the immune response have posed significant challenges in developing an effective HIV vaccine.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Kaposi sarcoma (KS) is a type of cancer that causes abnormal growths in the skin, lymph nodes, or other organs. It is caused by the Kaposi sarcoma-associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). There are several forms of KS, including:

1. Classic KS: This form primarily affects older men of Mediterranean, Middle Eastern, or Ashkenazi Jewish descent. It tends to progress slowly and mainly involves the skin.
2. Endemic KS: Found in parts of Africa, this form predominantly affects children and young adults, regardless of their HIV status.
3. Immunosuppression-associated KS: This form is more aggressive and occurs in people with weakened immune systems due to organ transplantation or other causes.
4. Epidemic KS (AIDS-related KS): This is the most common form of KS, seen primarily in people with HIV/AIDS. The widespread use of antiretroviral therapy (ART) has significantly reduced its incidence.

KS lesions can appear as red, purple, or brown spots on the skin and may also affect internal organs such as the lungs, lymph nodes, or gastrointestinal tract. Symptoms vary depending on the location of the lesions but often include fever, fatigue, weight loss, and swelling in the legs or abdomen. Treatment options depend on the extent and severity of the disease and may involve local therapies (e.g., radiation, topical treatments), systemic therapies (e.g., chemotherapy, immunotherapy), or a combination of these approaches.

"Macaca mulatta" is the scientific name for the Rhesus macaque, a species of monkey that is native to South, Central, and Southeast Asia. They are often used in biomedical research due to their genetic similarity to humans.

A viral RNA (ribonucleic acid) is the genetic material found in certain types of viruses, as opposed to viruses that contain DNA (deoxyribonucleic acid). These viruses are known as RNA viruses. The RNA can be single-stranded or double-stranded and can exist as several different forms, such as positive-sense, negative-sense, or ambisense RNA. Upon infecting a host cell, the viral RNA uses the host's cellular machinery to translate the genetic information into proteins, leading to the production of new virus particles and the continuation of the viral life cycle. Examples of human diseases caused by RNA viruses include influenza, COVID-19 (SARS-CoV-2), hepatitis C, and polio.

HIV Core Protein p24 is a structural protein that forms the cone-shaped core of the human immunodeficiency virus (HIV). It is one of the earliest and most abundant viral proteins produced during the replication cycle of HIV. The p24 antigen is often used as a marker for HIV infection in diagnostic tests, as its levels in the blood tend to correlate with the amount of virus present.

The core protein p24 plays a critical role in the assembly and infectivity of the virus. It helps to package the viral RNA and enzymes into the virion, and is also involved in the fusion of the viral and host cell membranes during infection. The p24 protein is produced by cleavage of a larger precursor protein called Gag, which is encoded by the HIV genome.

In addition to its role in the viral life cycle, p24 has also been the target of HIV vaccine development efforts, as antibodies against this protein can neutralize the virus and prevent infection. However, developing an effective HIV vaccine has proven to be a significant challenge due to the virus's ability to mutate and evade the immune system.

"Gene products, GAG" refer to the proteins that are produced by the GAG (Group-specific Antigen) gene found in retroviruses, such as HIV (Human Immunodeficiency Virus). These proteins play a crucial role in the structure and function of the viral particle or virion.

The GAG gene encodes for a polyprotein that is cleaved by a protease into several individual proteins, including matrix (MA), capsid (CA), and nucleocapsid (NC) proteins. These proteins are involved in the formation of the viral core, which encloses the viral RNA genome and associated enzymes required for replication.

The MA protein is responsible for binding to the host cell membrane during viral entry, while the CA protein forms the capsid shell that surrounds the viral RNA and NC protein. The NC protein binds to the viral RNA and helps to package it into the virion during assembly. Overall, GAG gene products are essential for the life cycle of retroviruses and are important targets for antiretroviral therapy in HIV-infected individuals.

Viral load refers to the amount or quantity of virus (like HIV, Hepatitis C, SARS-CoV-2) present in an individual's blood or bodily fluids. It is often expressed as the number of virus copies per milliliter of blood or fluid. Monitoring viral load is important in managing and treating certain viral infections, as a higher viral load may indicate increased infectivity, disease progression, or response to treatment.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Cytomegalovirus retinitis is a sight-threatening eye infection that affects the retina, which is the light-sensitive tissue at the back of the eye. It is caused by cytomegalovirus (CMV), a type of herpesvirus that can remain inactive in the body for years after initial infection.

In people with weakened immune systems, such as those with HIV/AIDS or those who have undergone organ transplantation, CMV can reactivate and cause serious complications. When it infects the retina, it can cause inflammation, hemorrhage, and necrosis (cell death), leading to vision loss.

Symptoms of CMV retinitis may include floaters, blurred vision, blind spots, or loss of peripheral vision. If left untreated, the infection can spread to other parts of the eye and cause further damage. Treatment typically involves antiviral medications that are given intravenously or in the form of eye drops. In some cases, laser surgery may be necessary to prevent the spread of the infection.

Opportunistic infections (OIs) are infections that occur more frequently or are more severe in individuals with weakened immune systems, often due to a underlying condition such as HIV/AIDS, cancer, or organ transplantation. These infections are caused by microorganisms that do not normally cause disease in people with healthy immune function, but can take advantage of an opportunity to infect and cause damage when the body's defense mechanisms are compromised. Examples of opportunistic infections include Pneumocystis pneumonia, tuberculosis, candidiasis (thrush), and cytomegalovirus infection. Preventive measures, such as antimicrobial medications and vaccinations, play a crucial role in reducing the risk of opportunistic infections in individuals with weakened immune systems.

Immunoglobulin G (IgG) is a type of antibody, which is a protective protein produced by the immune system in response to foreign substances like bacteria or viruses. IgG is the most abundant type of antibody in human blood, making up about 75-80% of all antibodies. It is found in all body fluids and plays a crucial role in fighting infections caused by bacteria, viruses, and toxins.

IgG has several important functions:

1. Neutralization: IgG can bind to the surface of bacteria or viruses, preventing them from attaching to and infecting human cells.
2. Opsonization: IgG coats the surface of pathogens, making them more recognizable and easier for immune cells like neutrophils and macrophages to phagocytose (engulf and destroy) them.
3. Complement activation: IgG can activate the complement system, a group of proteins that work together to help eliminate pathogens from the body. Activation of the complement system leads to the formation of the membrane attack complex, which creates holes in the cell membranes of bacteria, leading to their lysis (destruction).
4. Antibody-dependent cellular cytotoxicity (ADCC): IgG can bind to immune cells like natural killer (NK) cells and trigger them to release substances that cause target cells (such as virus-infected or cancerous cells) to undergo apoptosis (programmed cell death).
5. Immune complex formation: IgG can form immune complexes with antigens, which can then be removed from the body through various mechanisms, such as phagocytosis by immune cells or excretion in urine.

IgG is a critical component of adaptive immunity and provides long-lasting protection against reinfection with many pathogens. It has four subclasses (IgG1, IgG2, IgG3, and IgG4) that differ in their structure, function, and distribution in the body.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

CD4 antigens, also known as CD4 proteins or CD4 molecules, are a type of cell surface receptor found on certain immune cells, including T-helper cells and monocytes. They play a critical role in the immune response by binding to class II major histocompatibility complex (MHC) molecules on the surface of antigen-presenting cells and helping to activate T-cells. CD4 antigens are also the primary target of the human immunodeficiency virus (HIV), which causes AIDS, leading to the destruction of CD4-positive T-cells and a weakened immune system.

CD4-positive T-lymphocytes, also known as CD4+ T cells or helper T cells, are a type of white blood cell that plays a crucial role in the immune response. They express the CD4 receptor on their surface and help coordinate the immune system's response to infectious agents such as viruses and bacteria.

CD4+ T cells recognize and bind to specific antigens presented by antigen-presenting cells, such as dendritic cells or macrophages. Once activated, they can differentiate into various subsets of effector cells, including Th1, Th2, Th17, and Treg cells, each with distinct functions in the immune response.

CD4+ T cells are particularly important in the immune response to HIV (human immunodeficiency virus), which targets and destroys these cells, leading to a weakened immune system and increased susceptibility to opportunistic infections. The number of CD4+ T cells is often used as a marker of disease progression in HIV infection, with lower counts indicating more advanced disease.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

Viral DNA refers to the genetic material present in viruses that consist of DNA as their core component. Deoxyribonucleic acid (DNA) is one of the two types of nucleic acids that are responsible for storing and transmitting genetic information in living organisms. Viruses are infectious agents much smaller than bacteria that can only replicate inside the cells of other organisms, called hosts.

Viral DNA can be double-stranded (dsDNA) or single-stranded (ssDNA), depending on the type of virus. Double-stranded DNA viruses have a genome made up of two complementary strands of DNA, while single-stranded DNA viruses contain only one strand of DNA.

Examples of dsDNA viruses include Adenoviruses, Herpesviruses, and Poxviruses, while ssDNA viruses include Parvoviruses and Circoviruses. Viral DNA plays a crucial role in the replication cycle of the virus, encoding for various proteins necessary for its multiplication and survival within the host cell.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

Addison disease, also known as primary adrenal insufficiency or hypocortisolism, is a rare endocrine disorder characterized by the dysfunction and underproduction of hormones produced by the adrenal glands, specifically cortisol and aldosterone. The adrenal glands are located on top of the kidneys and play a crucial role in regulating various bodily functions such as metabolism, blood pressure, stress response, and immune system function.

The primary cause of Addison disease is the destruction of more than 90% of the adrenal cortex, which is the outer layer of the adrenal glands responsible for hormone production. This damage can be due to an autoimmune disorder where the body's immune system mistakenly attacks and destroys the adrenal gland tissue, infections such as tuberculosis or HIV, cancer, genetic disorders, or certain medications.

The symptoms of Addison disease often develop gradually and may include fatigue, weakness, weight loss, decreased appetite, low blood pressure, darkening of the skin, and mood changes. In some cases, an acute crisis known as acute adrenal insufficiency or Addisonian crisis can occur, which is a medical emergency characterized by sudden and severe symptoms such as extreme weakness, confusion, dehydration, vomiting, diarrhea, low blood sugar, and coma.

Diagnosis of Addison disease typically involves blood tests to measure hormone levels, imaging studies such as CT scans or MRIs to assess the adrenal glands' size and structure, and stimulation tests to evaluate the adrenal glands' function. Treatment usually involves replacing the missing hormones with medications such as hydrocortisone, fludrocortisone, and sometimes mineralocorticoids. With proper treatment and management, individuals with Addison disease can lead normal and productive lives.

Retinitis pigmentosa (RP) is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina - a light-sensitive tissue located at the back of the eye. The retina converts light into electrical signals which are then sent to the brain and interpreted as visual images.

In RP, the cells that detect light (rods and cones) degenerate more slowly than other cells in the retina, leading to a progressive loss of vision. Symptoms typically begin in childhood with night blindness (difficulty seeing in low light), followed by a gradual narrowing of the visual field (tunnel vision). Over time, this can lead to significant vision loss and even blindness.

The condition is usually inherited and there are several different genes that have been associated with RP. The diagnosis is typically made based on a combination of genetic testing, family history, and clinical examination. Currently, there is no cure for RP, but researchers are actively working to develop new treatments that may help slow or stop the progression of the disease.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

Reverse Transcriptase Inhibitors (RTIs) are a class of antiretroviral drugs that are primarily used in the treatment and management of HIV (Human Immunodeficiency Virus) infection. They work by inhibiting the reverse transcriptase enzyme, which is essential for the replication of HIV.

HIV is a retrovirus, meaning it has an RNA genome and uses a unique enzyme called reverse transcriptase to convert its RNA into DNA. This process is necessary for the virus to integrate into the host cell's genome and replicate. Reverse Transcriptase Inhibitors interfere with this process by binding to the reverse transcriptase enzyme, preventing it from converting the viral RNA into DNA.

RTIs can be further divided into two categories: nucleoside/nucleotide reverse transcriptase inhibitors (NRTIs) and non-nucleoside reverse transcriptase inhibitors (NNRTIs). NRTIs are analogs of the building blocks of DNA, which get incorporated into the growing DNA chain during replication, causing termination of the chain. NNRTIs bind directly to the reverse transcriptase enzyme, causing a conformational change that prevents it from functioning.

By inhibiting the reverse transcriptase enzyme, RTIs can prevent the virus from replicating and reduce the viral load in an infected individual, thereby slowing down the progression of HIV infection and AIDS (Acquired Immunodeficiency Syndrome).

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

B-lymphocytes, also known as B-cells, are a type of white blood cell that plays a key role in the immune system's response to infection. They are responsible for producing antibodies, which are proteins that help to neutralize or destroy pathogens such as bacteria and viruses.

When a B-lymphocyte encounters a pathogen, it becomes activated and begins to divide and differentiate into plasma cells, which produce and secrete large amounts of antibodies specific to the antigens on the surface of the pathogen. These antibodies bind to the pathogen, marking it for destruction by other immune cells such as neutrophils and macrophages.

B-lymphocytes also have a role in presenting antigens to T-lymphocytes, another type of white blood cell involved in the immune response. This helps to stimulate the activation and proliferation of T-lymphocytes, which can then go on to destroy infected cells or help to coordinate the overall immune response.

Overall, B-lymphocytes are an essential part of the adaptive immune system, providing long-lasting immunity to previously encountered pathogens and helping to protect against future infections.

Long QT syndrome (LQTS) is a cardiac electrical disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), which can potentially trigger rapid, chaotic heartbeats known as ventricular tachyarrhythmias, such as torsades de pointes. These arrhythmias can be life-threatening and lead to syncope (fainting) or sudden cardiac death. LQTS is often congenital but may also be acquired due to certain medications, medical conditions, or electrolyte imbalances. It's essential to identify and manage LQTS promptly to reduce the risk of severe complications.

A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.

Retroviridae infections refer to diseases caused by retroviruses, which are a type of virus that integrates its genetic material into the DNA of the host cell. This allows the virus to co-opt the cell's own machinery to produce new viral particles and infect other cells.

Some well-known retroviruses include human immunodeficiency virus (HIV), which causes AIDS, and human T-lymphotropic virus (HTLV), which can cause certain types of cancer and neurological disorders.

Retroviral infections can have a range of clinical manifestations depending on the specific virus and the host's immune response. HIV infection, for example, is characterized by progressive immunodeficiency that makes the infected individual susceptible to a wide range of opportunistic infections and cancers. HTLV infection, on the other hand, can cause adult T-cell leukemia/lymphoma or tropical spastic paraparesis, a neurological disorder.

Prevention and treatment strategies for retroviral infections depend on the specific virus but may include antiretroviral therapy (ART), vaccination, and behavioral modifications to reduce transmission risk.

Cerebral toxoplasmosis is a type of toxoplasmosis, which is an infection caused by the Toxoplasma gondii parasite. In cerebral toxoplasmosis, the infection primarily affects the brain, leading to inflammation and the formation of lesions or abscesses in the brain tissue.

This condition is most commonly observed in individuals with weakened immune systems, such as those living with HIV/AIDS, receiving immunosuppressive therapy after organ transplantation, or having other conditions that compromise their immune function. The infection can cause a range of neurological symptoms, including headaches, seizures, confusion, memory loss, poor coordination, and in severe cases, coma or even death. Early diagnosis and treatment with appropriate antiparasitic medications are crucial to manage the infection and prevent complications.

Hyperthyroidism is a medical condition characterized by an excessive production and release of thyroid hormones from the thyroid gland, leading to an increased metabolic rate in various body systems. The thyroid gland, located in the front of the neck, produces two main thyroid hormones: triiodothyronine (T3) and thyroxine (T4). These hormones play crucial roles in regulating many bodily functions, including heart rate, digestion, energy levels, and mood.

In hyperthyroidism, the elevated levels of T3 and T4 can cause a wide range of symptoms, such as rapid heartbeat, weight loss, heat intolerance, increased appetite, tremors, anxiety, and sleep disturbances. Some common causes of hyperthyroidism include Graves' disease, toxic adenoma, Plummer's disease (toxic multinodular goiter), and thyroiditis. Proper diagnosis and treatment are essential to manage the symptoms and prevent potential complications associated with this condition.

Antibodies, viral are proteins produced by the immune system in response to an infection with a virus. These antibodies are capable of recognizing and binding to specific antigens on the surface of the virus, which helps to neutralize or destroy the virus and prevent its replication. Once produced, these antibodies can provide immunity against future infections with the same virus.

Viral antibodies are typically composed of four polypeptide chains - two heavy chains and two light chains - that are held together by disulfide bonds. The binding site for the antigen is located at the tip of the Y-shaped structure, formed by the variable regions of the heavy and light chains.

There are five classes of antibodies in humans: IgA, IgD, IgE, IgG, and IgM. Each class has a different function and is distributed differently throughout the body. For example, IgG is the most common type of antibody found in the bloodstream and provides long-term immunity against viruses, while IgA is found primarily in mucous membranes and helps to protect against respiratory and gastrointestinal infections.

In addition to their role in the immune response, viral antibodies can also be used as diagnostic tools to detect the presence of a specific virus in a patient's blood or other bodily fluids.

Sensorineural hearing loss (SNHL) is a type of hearing impairment that occurs due to damage to the inner ear (cochlea) or to the nerve pathways from the inner ear to the brain. It can be caused by various factors such as aging, exposure to loud noises, genetics, certain medical conditions (like diabetes and heart disease), and ototoxic medications.

SNHL affects the ability of the hair cells in the cochlea to convert sound waves into electrical signals that are sent to the brain via the auditory nerve. As a result, sounds may be perceived as muffled, faint, or distorted, making it difficult to understand speech, especially in noisy environments.

SNHL is typically permanent and cannot be corrected with medication or surgery, but hearing aids or cochlear implants can help improve communication and quality of life for those affected.

Bartter syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb sodium and chloride, leading to an imbalance of electrolytes in the body. This condition is characterized by hypokalemia (low potassium levels), metabolic alkalosis (high pH levels in the blood), and normal or low blood pressure. It can also result in increased urine production, excessive thirst, and growth retardation in children. There are two major types of Bartter syndrome, based on the genes affected: type I caused by mutations in the SLC12A1 gene, and type II caused by mutations in the KCNJ1 gene. Type III is caused by mutations in the CLCNKB gene, while type IV is caused by mutations in the BSND or CLCNKB genes. Treatment typically involves supplementation of electrolytes, such as potassium and magnesium, as well as nonsteroidal anti-inflammatory drugs (NSAIDs) to help reduce sodium loss in the urine.

HIV Reverse Transcriptase is an enzyme that is encoded by the HIV-1 and HIV-2 viruses. It plays a crucial role in the replication cycle of the human immunodeficiency virus (HIV), which causes AIDS.

Reverse transcriptase is responsible for transcribing the viral RNA genome into DNA, a process known as reverse transcription. This allows the viral genetic material to integrate into the host cell's DNA and replicate along with it, leading to the production of new virus particles.

The enzyme has three distinct activities: a polymerase activity that synthesizes DNA using RNA as a template, an RNase H activity that degrades the RNA template during reverse transcription, and a DNA-dependent DNA polymerase activity that synthesizes DNA using a DNA template.

Reverse transcriptase inhibitors are a class of antiretroviral drugs used to treat HIV infection. They work by binding to and inhibiting the activity of the reverse transcriptase enzyme, thereby preventing the virus from replicating.

Immunoglobulin E (IgE) is a type of antibody that plays a key role in the immune response to parasitic infections and allergies. It is produced by B cells in response to stimulation by antigens, such as pollen, pet dander, or certain foods. Once produced, IgE binds to receptors on the surface of mast cells and basophils, which are immune cells found in tissues and blood respectively. When an individual with IgE antibodies encounters the allergen again, the cross-linking of IgE molecules bound to the FcεRI receptor triggers the release of mediators such as histamine, leukotrienes, prostaglandins, and various cytokines from these cells. These mediators cause the symptoms of an allergic reaction, such as itching, swelling, and redness. IgE also plays a role in protecting against certain parasitic infections by activating eosinophils, which can kill the parasites.

In summary, Immunoglobulin E (IgE) is a type of antibody that plays a crucial role in the immune response to allergens and parasitic infections, it binds to receptors on the surface of mast cells and basophils, when an individual with IgE antibodies encounters the allergen again, it triggers the release of mediators from these cells causing the symptoms of an allergic reaction.

Immunoglobulin D (IgD) is a type of antibody that is present in the blood and other bodily fluids. It is one of the five classes of immunoglobulins (IgA, IgD, IgE, IgG, and IgM) found in humans and plays a role in the immune response.

IgD is produced by B cells, a type of white blood cell that is responsible for producing antibodies. It is primarily found on the surface of mature B cells, where it functions as a receptor for antigens (foreign substances that trigger an immune response). When an antigen binds to IgD on the surface of a B cell, it activates the B cell and stimulates it to produce and secrete antibodies specific to that antigen.

IgD is found in relatively low concentrations in the blood compared to other immunoglobulins, and its precise functions are not fully understood. However, it is thought to play a role in the regulation of B cell activation and the immune response. Additionally, some research suggests that IgD may have a direct role in protecting against certain types of infections.

It's worth noting that genetic deficiencies in IgD are not typically associated with any significant immunological abnormalities or increased susceptibility to infection.

Lymphatic diseases refer to a group of conditions that affect the lymphatic system, which is an important part of the immune and circulatory systems. The lymphatic system consists of a network of vessels, organs, and tissues that help to transport lymph fluid throughout the body, fight infection, and remove waste products.

Lymphatic diseases can be caused by various factors, including genetics, infections, cancer, and autoimmune disorders. Some common types of lymphatic diseases include:

1. Lymphedema: A condition that causes swelling in the arms or legs due to a blockage or damage in the lymphatic vessels.
2. Lymphoma: A type of cancer that affects the lymphatic system, including Hodgkin's and non-Hodgkin's lymphoma.
3. Infections: Certain bacterial and viral infections can affect the lymphatic system, such as tuberculosis, cat-scratch disease, and HIV/AIDS.
4. Autoimmune disorders: Conditions such as rheumatoid arthritis, lupus, and scleroderma can cause inflammation and damage to the lymphatic system.
5. Congenital abnormalities: Some people are born with abnormalities in their lymphatic system, such as malformations or missing lymph nodes.

Symptoms of lymphatic diseases may vary depending on the specific condition and its severity. Treatment options may include medication, physical therapy, surgery, or radiation therapy. It is important to seek medical attention if you experience symptoms of a lymphatic disease, as early diagnosis and treatment can improve outcomes.

A gene product is the biochemical material, such as a protein or RNA, that is produced by the expression of a gene. Env, short for "envelope," refers to a type of gene product that is commonly found in enveloped viruses. The env gene encodes the viral envelope proteins, which are crucial for the virus's ability to attach to and enter host cells during infection. These envelope proteins typically form a coat around the exterior of the virus and interact with receptors on the surface of the host cell, triggering the fusion or endocytosis processes that allow the viral genome to enter the host cell.

Therefore, in medical terms, 'Gene Products, env' specifically refers to the proteins or RNA produced by the env gene in enveloped viruses, which play a critical role in the virus's infectivity and pathogenesis.

The nef gene in the Human Immunodeficiency Virus (HIV) encodes for the nef protein, which is a key regulatory protein for the virus. The nef gene products, which include the nef protein and its cleavage fragments, play several crucial roles in the viral life cycle and the pathogenesis of HIV infection.

The nef protein is a myristoylated, multifunctional type I transmembrane protein that localizes to the plasma membrane and endosomal compartments. It has been shown to have several effects on both viral replication and host cell functions:

1. Downregulation of CD4 receptor and major histocompatibility complex class I (MHC-I) molecules from the cell surface: By reducing the expression of these molecules, nef helps HIV to evade the immune response and enhances viral infectivity.
2. Enhancement of virion infectivity: Nef can increase the incorporation of viral envelope proteins into virions and promote their fusogenic activity, leading to more efficient infection of target cells.
3. Augmentation of viral replication: Nef contributes to the activation of signaling pathways that stimulate viral gene expression and support the establishment of viral reservoirs in infected cells.
4. Modulation of host cell signal transduction: Nef can interact with various host cell proteins, affecting their functions and contributing to HIV-induced immune dysfunction and disease progression.

The nef gene products are essential for efficient HIV replication and pathogenesis, making them potential targets for antiretroviral therapy and vaccine development.

Retroviridae is a family of viruses that includes HIV (Human Immunodeficiency Virus). Retroviridae proteins refer to the various structural and functional proteins that are encoded by the retroviral genome. These proteins can be categorized into three main groups:

1. Group-specific antigen (Gag) proteins: These proteins make up the viral matrix, capsid, and nucleocapsid. They are involved in the assembly of new virus particles.

2. Polymerase (Pol) proteins: These proteins include the reverse transcriptase, integrase, and protease enzymes. Reverse transcriptase is responsible for converting the viral RNA genome into DNA, which can then be integrated into the host cell's genome by the integrase enzyme. The protease enzyme is involved in processing the polyprotein precursors of Gag and Pol into their mature forms.

3. Envelope (Env) proteins: These proteins are responsible for the attachment and fusion of the virus to the host cell membrane. They are synthesized as a precursor protein, which is then cleaved by a host cell protease to form two distinct proteins - the surface unit (SU) and the transmembrane unit (TM). The SU protein contains the receptor-binding domain, while the TM protein forms the transmembrane anchor.

Retroviral proteins play crucial roles in various stages of the viral life cycle, including entry, reverse transcription, integration, transcription, translation, assembly, and release. Understanding the functions of these proteins is essential for developing effective antiretroviral therapies and vaccines against retroviral infections.

Mannose-6-Phosphate Isomerase (MPI) is an enzyme that catalyzes the interconversion between mannose-6-phosphate and fructose-6-phosphate, which are both key metabolites in the glycolysis and gluconeogenesis pathways. This enzyme plays a crucial role in maintaining the balance between these two metabolic pathways, allowing cells to either break down or synthesize glucose depending on their energy needs.

The gene that encodes for MPI is called MPI1 and is located on chromosome 4 in humans. Defects in this gene can lead to a rare genetic disorder known as Mannose-6-Phosphate Isomerase Deficiency or Congenital Disorder of Glycosylation Type IIm, which is characterized by developmental delay, intellectual disability, seizures, and various other neurological symptoms.

HIV seronegativity is a term used to describe a person who has tested negative for HIV (Human Immunodeficiency Virus) antibodies in their blood. This means that the individual does not show evidence of current or past infection with HIV, which can cause AIDS (Acquired Immune Deficiency Syndrome). However, it's important to note that there is a window period after initial infection during which a person may test negative for HIV antibodies, even though they are indeed infected. This window period typically lasts between 2-6 weeks but can extend up to 3 months in some cases. Therefore, if someone believes they have been exposed to HIV, they should consider getting tested again after this window period has passed.

Cardio-renal syndrome (CRS) is a term used to describe the interplay between heart and kidney dysfunction, where acute or chronic damage in one organ can lead to dysfunction in the other. It is typically classified into five subtypes based on the primary organ dysfunction and the temporal relationship between cardiac and renal dysfunction.

The medical definition of CRS is:

A complex pathophysiological disorder involving heart and kidney interactions, where acute or chronic dysfunction in one organ can lead to dysfunction in the other. It is characterized by a spectrum of clinical presentations ranging from subtle biochemical changes to overt cardiac or renal failure. The syndrome encompasses five subtypes based on the primary organ dysfunction and the temporal relationship between heart and kidney involvement:

1. CRS Type 1 (Acute Cardio-Renal Syndrome): Acute worsening of heart function leading to acute kidney injury (AKI)
2. CRS Type 2 (Chronic Cardio-Renal Syndrome): Chronic abnormalities in cardiac function causing progressive and chronic kidney disease (CKD)
3. CRS Type 3 (Acute Reno-Cardiac Syndrome): Sudden worsening of renal function leading to acute cardiac injury or dysfunction
4. CRS Type 4 (Chronic Reno-Cardiac Syndrome): Chronic kidney disease contributing to decreased cardiac function, heart failure, and/or cardiovascular morbidity and mortality
5. CRS Type 5 (Secondary Cardio-Renal Syndrome): Systemic conditions causing simultaneous dysfunction in both the heart and kidneys

The pathophysiology of CRS involves complex interactions between neurohormonal, inflammatory, and hemodynamic factors that can lead to a vicious cycle of worsening organ function. Early recognition and management of CRS are crucial for improving patient outcomes.

Langer-Giedion Syndrome, also known as Trichorhinophalangeal Syndrome Type II (TRPSII), is a rare genetic disorder characterized by the presence of multiple exostoses (bony growths) and various distinctive facial features. It is caused by a deletion or mutation in the NIPBL gene, which is involved in regulating the activity of other genes during development.

The symptoms of Langer-Giedion Syndrome can include:

* Multiple exostoses (bony growths) on the long bones and ribs
* A prominent forehead (frontal bossing)
* Widely spaced eyes (hypertelorism)
* A broad and flat nasal bridge
* A long, thin nose with a bulbous tip
* Small, low-set ears
* A small jaw (micrognathia)
* Dental abnormalities
* Developmental delay or intellectual disability
* Skeletal abnormalities such as scoliosis and short stature
* Skin abnormalities such as thin skin on the hands and feet, and increased vulnerability to bruising.

It is important to note that this syndrome is very rare, with only a few hundred cases reported worldwide. The diagnosis of Langer-Giedion Syndrome is typically made based on clinical examination, medical history, and genetic testing. Management of the condition typically involves a multidisciplinary team of specialists including orthopedic surgeons, dental specialists, and geneticists to address the various symptoms and complications associated with the syndrome.

AIDS serodiagnosis refers to the detection and confirmation of HIV (Human Immunodeficiency Virus) infection through the identification of antibodies produced by the immune system in response to the virus. These antibodies are typically detected in blood samples using various testing methods, such as ELISA (Enzyme-Linked Immunosorbent Assay) and Western blot. A positive result in both tests indicates a high probability of HIV infection and progression to AIDS (Acquired Immune Deficiency Syndrome), provided the individual has not been recently infected, as it may take several weeks for the antibodies to develop and become detectable. Regular testing and early diagnosis are crucial for timely medical intervention, treatment, and prevention of further transmission.

Photobleaching is a process in microscopy where fluorescent molecules, used as labels to visualize specific structures or proteins within cells, lose their ability to fluoresce after exposure to high-intensity light. This can occur due to the chemical alteration of the fluorophore's structure, which causes a loss of its ability to absorb and emit light. Photobleaching is often used in fluorescence recovery after photobleaching (FRAP) experiments to measure the mobility and diffusion rates of proteins within living cells. However, it can also be a limitation in long-term imaging studies as it reduces the signal-to-noise ratio and can lead to the loss of important information.

Lymphocyte activation is the process by which B-cells and T-cells (types of lymphocytes) become activated to perform effector functions in an immune response. This process involves the recognition of specific antigens presented on the surface of antigen-presenting cells, such as dendritic cells or macrophages.

The activation of B-cells leads to their differentiation into plasma cells that produce antibodies, while the activation of T-cells results in the production of cytotoxic T-cells (CD8+ T-cells) that can directly kill infected cells or helper T-cells (CD4+ T-cells) that assist other immune cells.

Lymphocyte activation involves a series of intracellular signaling events, including the binding of co-stimulatory molecules and the release of cytokines, which ultimately result in the expression of genes involved in cell proliferation, differentiation, and effector functions. The activation process is tightly regulated to prevent excessive or inappropriate immune responses that can lead to autoimmunity or chronic inflammation.

Didanosine is a medication used to treat HIV (human immunodeficiency virus) infection. It is an antiretroviral drug, specifically a nucleoside reverse transcriptase inhibitor (NRTI), that works by interfering with the replication of the virus in the body. Didanosine is often used in combination with other antiretroviral drugs as part of highly active antiretroviral therapy (HAART) to help control HIV infection and reduce the risk of HIV-related illnesses.

The medical definition of 'Didanosine' is:

A synthetic nucleoside analogue that inhibits the reverse transcriptase activity of the human immunodeficiency virus (HIV). It is converted in vivo to the active metabolite dideoxyadenosine triphosphate, which competitively inhibits HIV DNA polymerase and has antiviral properties. The drug is used in the treatment of HIV infection and AIDS.

Antiviral agents are a class of medications that are designed to treat infections caused by viruses. Unlike antibiotics, which target bacteria, antiviral agents interfere with the replication and infection mechanisms of viruses, either by inhibiting their ability to replicate or by modulating the host's immune response to the virus.

Antiviral agents are used to treat a variety of viral infections, including influenza, herpes simplex virus (HSV) infections, human immunodeficiency virus (HIV) infection, hepatitis B and C, and respiratory syncytial virus (RSV) infections.

These medications can be administered orally, intravenously, or topically, depending on the type of viral infection being treated. Some antiviral agents are also used for prophylaxis, or prevention, of certain viral infections.

It is important to note that antiviral agents are not effective against all types of viruses and may have significant side effects. Therefore, it is essential to consult with a healthcare professional before starting any antiviral therapy.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4". www.omim.org. Retrieved 2 January 2018. "X-linked Immunodeficiency With Hyper ... Hyper IgM Syndrome Type 2 is a rare disease. Unlike other hyper-IgM syndromes, Type 2 patients identified thus far did not ... TYPE 3; HIGM3". www.omim.org. Retrieved 16 November 2016. "OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; ... "OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1". www.omim.org. Retrieved 16 November 2016. "OMIM Entry ...
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4". www.omim.org. Retrieved 2 January 2018. "X-linked Immunodeficiency With Hyper ... Hyper-IgM syndrome type 4 is a form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the ... TYPE 3; HIGM3". www.omim.org. Retrieved 16 November 2016. "OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; ... "OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1". www.omim.org. Retrieved 16 November 2016. "OMIM Entry ...
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4". www.omim.org. Retrieved 2 January 2018. "X-linked Immunodeficiency With Hyper ... Hyper-IgM syndrome type 3 is a form of hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B ... TYPE 3; HIGM3". www.omim.org. Retrieved 16 November 2016. "OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; ... "OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1". www.omim.org. Retrieved 16 November 2016. "OMIM Entry ...
GeneReviews/NCBI/NIH/UW entry on X-Linked Hyper IgM Syndrome or Immunodeficiency with Hyper-IgM, Type 1 (Articles with short ... from hyper IgM syndrome to human immunodeficiency virus infection". The Journal of Infectious Diseases. 185 (Suppl 1): S83-9. ... Bhushan A, Covey LR (2002). "CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes". Immunologic Research. ... "Entrez Gene: CD40LG CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)". Lederman S, Yellin MJ, Krichevsky A, Belko J ...
TYPE 3; HIGM3". www.omim.org. Retrieved 16 November 2016. "OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; ... IgM) to the other three immunoglobulins types. Hyper IgM syndromes is a group of primary immune deficiency disorders ... The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. The symptoms are similar ... In hyper-IgM syndromes, patients are deficient in the immunoglobulins, IgG, IgE and IgA types since the antibody producing B ...
There are 5 types of hypergammaglobulinemias associated with hyper IgM. MeSH considers hyper IgM syndrome to be a form of ... as well as hyper IgM. Immunodeficiency with hyper IgM type 2 is caused by a mutation in the Activation-Induced Cytidine ... so there is an excess of IgM and little to no other immunoglobulin types produced. Immunodeficiency with hyper IgM type 4 is ... Immunodeficiency with hyper IgM - 308230 Park LC X-linked Immunodeficiency with hyper IgM at eMedicine Lichtman, Andrew H.; ...
TYPE 3; HIGM3". www.omim.org. Retrieved 16 November 2016. "OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; ... Five types of hyper IgM syndrome have been characterized: Hyper-IgM syndrome type 1 (X-linked), characterized by mutations of ... All forms of hyper-IgM syndrome are rare. According to the US X-HIGM registry, the prevalence of X-linked hyper IgM syndrome (X ... Hyper-IgM syndrome type 6 is the least-characterized of the HIGM types, as the gene is unknown. Resembles HIGM2, but AID is ...
Wiskott-Aldrich syndrome (WAS) Autoimmune lymphoproliferative syndrome (ALPS) Hyper IgM syndrome: X-linked disorder that causes ... DiGeorge syndrome Hyperimmunoglobulin E syndrome (also known as Job's Syndrome) Common variable immunodeficiency (CVID): B cell ... Lupus Scleroderma Certain types of hemolytic anemia Vasculitis Type 1 diabetes Graves' disease Rheumatoid arthritis Multiple ... Goodpasture syndrome Pernicious anemia Some types of myopathy Lyme disease (Late) Celiac disease Alopecia Areata Primary immune ...
Normal numbers of B cells with decreased IgG and IgA and increased IgM: Hyper-IgM syndromes Normal numbers of B cells with ... Autoimmune lymphoproliferative syndrome: type 1a (CD95 defects), type 1b (Fas ligand defects), type 2a (CASP10 defects), type ... Immunodeficiency with hypopigmentation or albinism: Chédiak-Higashi syndrome, Griscelli syndrome type 2 Familial hemophagocytic ... syndrome Nijmegen breakage syndrome Bloom syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1, 2 ...
Normal numbers of B cells with decreased IgG and IgA and increased IgM: Hyper-IgM syndromes Normal numbers of B cells with ... sometimes IgM): common variable immunodeficiency (CVID), ICOS deficiency, CD19 deficiency, TACI (TNFRSF13B) deficiency, BAFF ... Absent B cells with a resultant severe reduction of all types of antibody: X-linked agammaglobulinemia (btk deficiency, or ... 2006). "Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary ...
"Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia". Nature Immunology. 2 ... and several other types of immunodeficiencies. Incontinentia Pigmenti (IP) is an X-linked dominant disease caused by a mutation ... NEMO deficiency syndrome is a rare genetic condition relating to a fault in IKBKG. It mostly affects males and has a highly ... Furthermore, wild type NBD peptide has been shown to dose-dependently inhibit interaction of IKKB with NEMO compared to mutant ...
"Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ('FILS syndrome ... Ehlers-Danlos syndrome - connective tissue disorder, often with many secondary conditions, may be present in all types ... tissue augmentation As a rare skin finding in children with Down syndrome Idiopathic livedo reticularis with polyclonal IgM ... Examples include hyperlipidemia, microvascular hematological or anemia states, nutritional deficiencies, hyper- and autoimmune ...
Zhu Y, Nonoyama S, Morio T, Muramatsu M, Honjo T, Mizutani S (2003). "Type two hyper-IgM syndrome caused by mutation in ... immunodeficiency, and B-cell malignancies". J. Allergy Clin. Immunol. 114 (4): 726-35, quiz 736. doi:10.1016/j.jaci.2004.07.049 ... Defects in this gene are associated with Hyper-IgM syndrome type 2. In certain haematological malignancies such as follicular ... deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)". Cell. 102 (5): 565-75. doi:10.1016/S0092- ...
... syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyperimmunoglobulin D syndrome ... type I Neuroleptic malignant syndrome Neuroleptic-Induced Deficit Syndrome Neutrophil immunodeficiency syndrome Nevo syndrome ... Hutchinson-Gilford progeria syndrome Hydrolethalus syndrome Hyper IgM syndrome Hyper-IgD syndrome Hyper-IgM syndrome type 1 ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
The presence of IgM or, rarely, IgG is one of the obligate criteria for a diagnosis of Schnitzler's syndrome. Immunodeficiency ... That is, depending on the type of antigen and the isotype of the antibody, the effect can be suppression or enhancement of the ... In 1937, an antibody was observed in horses hyper-immunized with pneumococcus polysaccharide that was much larger in size than ... In summary, hexameric IgM never contains the J chain; pentameric IgM can be formed so as to include or not include the J chain ...
... common variable immunodeficiency (CVID), hyper-IgM syndromes, IgG subclass deficiency, isolated non-IgG immunoglobulin ... The following lists types of "agammaglobulinemia" catalogued in the OMIM. Hypogammaglobulinemia can have other types; see ... Wiskott-Aldrich syndrome, or X-linked agammaglobulinemia. CVID is the most common form of primary immunodeficiency. SCID is ... and Wiskott-Aldrich syndrome, but has been extended to secondary immunodeficiencies over the last two decades. Another emerging ...
Hyper-IgM syndrome is a primary immunodeficiency disorder characterized by decreased serum levels of immunoglobulin (Ig) M and ... and on several types of tumor cells. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM ... In hyper-IgM syndrome, mutations in genes involved in CD40 signaling result in impaired B cell activation and differentiation, ... CD40 is involved in the development of hyper-IgM syndrome in that it serves as a co-stimulatory molecule in the activation and ...
... the Wiskott-Aldrich syndrome, ataxia telangiectasia, the radiosensitive forms of severe combined immunodeficiency disease (SCID ... are a group of disorders in which one or more types of lymphoid cells (a type of white blood cell), i.e. B cells, T cells, NK ... However, patients with CAEBV have a hyper-inflammatory condition with elevated blood levels of the same cytokines (i.e. IL-1β, ... Unlike the findings in IM, patients with TCLC show low or undetectable levels of circulating IgM antibody but detectable levels ...
... type 4; 608106; UNG Immunodeficiency with hyper-IgM, type 2; 605258; AICDA Immunodeficiency with hyper-IgM, type 3; 606843; ... type 1B; 276900; MYO7A Usher syndrome, type 1C; 276904; USH1C Usher syndrome, type 1D; 601067; CDH23 Usher syndrome, type 1D/F ... type 1F; 602083; PCDH15 Usher syndrome, type 1G; 606943; SANS Usher syndrome, type 2A; 276901; USH2A Usher syndrome, type 3; ... TRMU Loeys-Dietz syndrome, type 1A; 609192; TGFBR1 Loeys-Dietz syndrome, type 1B; 610168; TGFBR2 Loeys-Dietz syndrome, type 2A ...
Job syndrome) Immunodeficiency with hyper-IgM Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF syndrome ... Westerhof syndrome Whistling syndrome (craniocarpotarsal syndrome, distal arthrogryposis type 2, Freeman-Sheldon syndrome, ... Turner syndrome Ulnar-mammary syndrome Van Der Woude syndrome Von Hippel-Lindau syndrome Watson syndrome Werner syndrome (adult ... Familial Mediterranean fever Hyper-IgD syndrome Majeed syndrome Muckle-Wells syndrome TNF receptor associated periodic syndrome ...
Hyper Search: a type of web search engine based on link analysis invented in 1997 by Massimo Marchiori, whose algorithm played ... are credited with discovering the virus causing the acquired immunodeficiency syndrome (AIDS). Human Genome Diversity Project ( ... "d'Adda di Fagagna". www.igm.cnr.it. Retrieved 16 December 2019. "Scoperte da un team di ricercatori italiani molecole contro ... Bocce, a boules-type game dating back to Roman times and later developed in Italy; bocce volo as a variant. The game was spread ...
X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. Explore ... Immunodeficiency with Hyper-IgM, type 1. Additional Information & Resources. Genetic Testing Information. *Genetic Testing ... medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome/ X-linked hyper IgM syndrome. ... X-Linked Hyper IgM Syndrome. 2007 May 31 [updated 2020 Feb 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean ...
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4". www.omim.org. Retrieved 2 January 2018. "X-linked Immunodeficiency With Hyper ... Hyper IgM Syndrome Type 2 is a rare disease. Unlike other hyper-IgM syndromes, Type 2 patients identified thus far did not ... TYPE 3; HIGM3". www.omim.org. Retrieved 16 November 2016. "OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; ... "OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1". www.omim.org. Retrieved 16 November 2016. "OMIM Entry ...
Immunodeficiency diseases are commonly classified into disorders that affect one or more of the 4 major limbs of the immune ... These limbs are (1) B cells, ie, humoral immunity; (2) T cells, ie, cell-mediated immunity; (3) phagocytes; and (4) complement. ... Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest. ... These conditions are now recognized as fitting the categories of hyper-IgM syndromes and common variable immunodeficiency (CVID ...
Hyper-IgM syndrome; HIGM; IHIS. Immunodeficiency 3 Dysgammaglobulinemia, type 1. Tumor necrosis factor superfamily member 5 ( ... X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) is caused by the absence of CD40 ligand (TNFSF5 or CD154), which is ... Absence of TNFS5 interrupts B cells differentiation by somatic hypermutation and heavy-chain switch from IgM to other ... Hyper-IgM immunodeficiency, X-linked. Hyper-IgM syndrome 1. ... X-linked hyper-IgM syndrome (CD40L deficiency). *. General ...
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation ... SARS-CoV-2 infection associated with hepatitis in an infant with X-linked severe combined immunodeficiency. van Oers, N. S. C. ... The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). ... Transplantation outcomes for severe combined immunodeficiency, 2000-2009. Pai, S. Y., Logan, B. R., Griffith, L. M., Buckley, R ...
Human Disease Modeled: immunodeficiency with hyper-IgM type 2. Allelic Composition. Genetic Background. Reference. Phenotypes. ... hyperimmunoglobulin syndrome. IDs. hyperimmunoglobulin syndrome DOID:2959. NCI:C27579. UMLS_CUI:C1334069. ... Blue cells = expressed in wild-type.. Gray triangles = other expression annotations only. (e.g. absence of expression or data ... Homozygous mutation of this gene results in elevated IgM levels and impairment of B cell class switching. ...
Mutations of the gene for CD40 antigen result in HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 3. Signaling of the receptor occurs ... Mutation of the gene for CD40 ligand is a cause of HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1.. ... Immunoglobulin M (IgM) is a type of antibody produced by B cells in response to an infection or foreign substance, and is the ... Immunoglobulin M (IgM) is a type of antibody that is produced by B cells in response to an infection or foreign substance. It ...
Mutation of the gene for CD40 ligand is a cause of HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1.. ... The lack of B- and T-cell immunity resembles severe combined immunodeficiency (SCID) syndrome in human infants. SCID mice are ... The major human blood type system which depends on the presence or absence of two antigens A and B. Type O occurs when neither ... These types of cancer can originate from various cell types, including red blood cells, white blood cells, platelets, and ...
The following conditions are other congenital B-cell immunodeficiencies that serve as differential diagnoses for selective IgA ... Mutation of the gene for CD40 ligand is a cause of hyper-igm immunodeficiency syndrome, type 1. Hyper-IgM Syndrome. gene Gene A ... Common Variable Immunodeficiency (CVID). ): a type of primary immunodeficiency Immunodeficiency Chédiak-Higashi Syndrome. ... deficiency is the most common type of primary immunodeficiency Immunodeficiency Chédiak-Higashi Syndrome. . The condition is a ...
Glycogen Storage Disease Type VIII. *Granulomatous Disease, Chronic. *Hemophilia B. *Hyper-IgM Immunodeficiency Syndrome, Type ...
... is a rare form of primary immunodeficiency disease caused by mutations in the gene that codes for CD40 ligand (CD40L, also ... X-linked immunodeficiency with hyper-immunoglobulin M (XHIGM or HIGM1) ... CD40 ligand and the hyper-IgM syndrome. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford University ... 13] After 22 weeks of treatment, the patient mounted delayed-type hypersensitivity reactions and produced T helper (TH 1) ...
Causative XLH is incurable.… X-Linked Agammaglobulinemia Type 1 (Brutons Agammaglobulinemia): Read more about Symptoms, ... is a congenital immunodeficiency disorder, which is caused by pathological mutations in the Brutons tyrosine kinase (BTK). BTK ... in males Differential Diagnosis X-linked hyper IgM syndrome X-linked severe combined immunodeficiency X-linked ... If the levels of more than two types of immunoglobulin are decreased, XLA should be suspected. 9 Otolaryngologists should also ...
Hyper-IgM syndrome. 2. 2/0. 17-59. 10. Autoimmune lymphoproliferative syndrome 1. 0/1. 15. ... PID types. No. cases. M/F ratio. Age range, mo. 1. Hemophagocytic lymphohistiocytosis 11. 10/1. 4-96. ... Poliovirus Excretion in Children with Primary Immunodeficiency Disorders, India Madhu Chhanda Mohanty. , Manisha Rajan ... Poliovirus Excretion in Children with Primary Immunodeficiency Disorders, India. ...
... hyper IgM syndrome; HPV: human papillomavirus; Ig: immunoglobulins; MHC: major histocompatibility complex; Nl: normal; NK: ... syndrome; Tc: T cells; TLR3: Toll-like receptor type 3; VZV: varicella zoster virus; XL: X-linked transmission ... hyper IgE syndrome; FILS: facial dysmorphism, immunodeficiency, livedo and short stature; ID: immunodeficiency; Ig: ... ALPS: autoimmune lymphoproliferative syndrome; AutoAb: auto-antibodies; CID: combined immunodeficiency; CMC: chronic ...
Glycogen Storage Disease Type VIII. *Granulomatous Disease, Chronic. *Hemophilia B. *Hyper-IgM Immunodeficiency Syndrome, Type ...
Hyper-IgM Immunodeficiency Syndrome, Type 1 [C16.320.322.237] * Ichthyosis, X-Linked [C16.320.322.241] ... X-Linked Combined Immunodeficiency X-Linked Immunodeficiency Disease X-Linked Immunodeficiency Syndrome X-Linked SCID X-Linked ... Combined Immunodeficiency, X-Linked Immunodeficiency 4 Immunodeficiency 6 Immunodeficiency Diseases, X-Linked Combined SCID, X- ... Immunologic Deficiency Syndromes [C20.673] * Primary Immunodeficiency Diseases [C20.673.795] * Severe Combined Immunodeficiency ...
Hyper IgM Syndrome (15) *. X-Linked Agammaglobulinemia (12) *. IgG Subclass Deficiency (11) ... Overview of Primary Immunodeficiencies. *Types of PI. *Diagnosis Information. *Treatments. *Understanding the Immune System ... A promising new study shows that pioglitazone, a medication approved for treatment of type 2 diabetes, can affect the white ... We understand the challenges in finding a specialist who treates patients with a primary immunodeficiency disease. IDF ...
... also known as Bloch-Sulzberger syndrome, a rare, X-linked, dominantly inherited disorder of skin pigmentation that is often ... This article discusses what was formerly referred to as incontinentia pigmenti type 2, ... Hyper-IgM syndrome is also reported in EDA-ID.. Incontinentia pigmenti can also cause immunodeficiency in women and this may ... This article discusses what was formerly referred to as incontinentia pigmenti type 2, also known as Bloch-Sulzberger syndrome ...
Glycogen Storage Disease Type VIII. *Granulomatous Disease, Chronic. *Hemophilia B. *Hyper-IgM Immunodeficiency Syndrome, Type ... X-Linked Combined Immunodeficiency Diseases*X-Linked Combined Immunodeficiency Diseases. *X Linked Combined Immunodeficiency ... Severe Combined Immunodeficiency, X Linked. *Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK ... Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe ...
... also known as Bloch-Sulzberger syndrome, a rare, X-linked, dominantly inherited disorder of skin pigmentation that is often ... This article discusses what was formerly referred to as incontinentia pigmenti type 2, ... Hyper-IgM syndrome is also reported in EDA-ID.. Incontinentia pigmenti can also cause immunodeficiency in women and this may ... This article discusses what was formerly referred to as incontinentia pigmenti type 2, also known as Bloch-Sulzberger syndrome ...
FDA Grants Expanded Approval to Takedas Hyqvia to Include Treatment of Primary Immunodeficiency in Children. Drug Development ... Hyper-IgM syndrome type 5. Synonyms: HIGM5 , Hyper-IgM syndrome due to UNG deficiency , Hyper-IgM syndrome due to uracil N- ... Hyper-IgM syndrome without susceptibility to opportunistic infections. Disorder Group. Hyper-IgM syndrome without ... website Hyper IgM Foundation facebook Hyper IgM Foundation instagram Hyper IgM Foundation twitter ...
Immunodeficiency With Hyper-Igm, Type 2. Impaired Ig class switch recombination, Increased circulating IgM level, Decreased ... Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine ... Increased circulating IgM level, Decreased circulating IgG level, Conjunctivitis, Bone marrow hyp.... ORPHA:505248. ... Increased circulating IgM level, Increased circulating interleukin 6 concentration, Skin rash, Ac.... ORPHA:99829. ...
Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]. Hyper-IgM syndrome is a ... Lane 1 : Anti-UNG antibody (ab47680) at 0.5 µg/ml. Lane 2 : Anti-UNG antibody (ab47680) at 1 µg/ml. Lane 3 : Anti-UNG antibody ... ab47680 被引用在 1 文献中.. *Ferrando B et al. DNA repair in plant mitochondria - a complete base excision repair pathway in potato ... Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and testicles. Isoform 2 has the highest ...
A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child: A case report and ... CCR5 delta32 deletion and reduced risk of toxoplasmosis in persons infected with human immunodeficiency virus type 1. The ... Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase delta Syndrome Type 2 (APDS2): Case ... Cerebral toxoplasmosis in a patient with myasthenia gravis and thymoma with immunodeficiency/Goods syndrome: a case report // ...
Immunodeficiency With Hyper-Igm, Type 5. Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent ... Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells. ... Decreased circulating total IgM, Optic neuritis, Complete or near-complete absence of specific an.... OMIM:301081. ... Decreased circulating total IgM, Complete or near-complete absence of specific antibody response .... OMIM:613494. ...
Hyper IGM syndrome. With funding and support from IPOPI (International Patient Organisation for Primary Immunodeficiencies), ... hundred_percent="yes" overflow="visible"][fusion_builder_row][fusion_builder_column type="1_1" layout="1_1" last="yes" spacing ... which was constituted in 2001 when Mrs Joy Rosarios daughter Gaby Rosario was diagnosed with a Primary Immunodeficiency ... https://www.allergyfoundation.co.za/wp-content/uploads/2017/08/AFSA-NEWS-Icon-1.png ...
Severe combined immunodeficiency (SCID) *22q11 deletion (DiGeorge syndrome). *X-linked Hyper-IgM ... Haemophilus influenzae type B) ... Primary immunodeficiencies: *Are a diverse group of genetically ... Primary immunodeficiencies (PIDs) present with a variety of symptoms depending on which part of the immune system is affected ... ASCIA immunodeficiencies Immune deficiencies Foundation Australia Additional notes. The Australasian Society of Clinical ...
Immunodeficiency 71 with inflammatory disease + congenital thrombocytopenia (ARPC1B). *Immunodeficiency, XL with hyper-IgM ( ... Periodic fever, immunodeficiency + thrombocytopenia syndrome (WDR1). *Severe combined immunodeficiency due to ADA deficiency ( ... Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type (IL7R) ... Severe combined immunodeficiency, B cell-negative (RAG1, RAG2). * ... Hyper-IgE recurrent infection syndrome (STAT3). *Hyper-IgE ...
  • Immunoglobulin (Ig) class switch recombination deficiencies are characterized by elevated serum IgM levels and a considerable deficiency in Immunoglobulins G (IgG), A (IgA) and E (IgE). (wikipedia.org)
  • IgG deficiencies may occur as isolated deficiencies (eg, selective IgG deficiency) or in association with deficiencies of other immunoglobulin types. (medscape.com)
  • For information on deficiencies of other immunoglobulin types, see the Medscape Reference articles IgA Deficiency , IgD Deficiency , and IgM Deficiency . (medscape.com)
  • Inability to form these recognition structures or blocks in the differentiation and development of either of these cell types results in primary immune deficiency. (medscape.com)
  • Importantly, note that a low IgG level, with normal IgA and IgM levels, does not necessarily equate with antibody deficiency. (medscape.com)
  • This patient most likely has which of the following types of immune deficiency? (medsmarter.com)
  • My son's type, CD40 Ligand Deficiency, meant that his T cells did not function properly, leaving him in great danger if infected with any virus, even a cold. (hyperigm.org)
  • Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders (PID), with a broad spectrum of clinical features ranging from severe and recurrent infections to asymptomatic disease. (jiaci.org)
  • We performed a retrospective review of the medical records of all PAD patients with a confirmed diagnosis of common variable immunodeficiency (CVID), hyper IgM syndrome (HIgM), selective IgA deficiency (SIgAD), and X-linked agammaglobulinemia (XLA) who were diagnosed during the last 30 years at the Children s Medical Center, Tehran, Iran. (jiaci.org)
  • Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term). (nih.gov)
  • vƙv�9c8��ư�b`I�b�1Dd�^�vv�)n�&淄$Lp�Ny��]��p��vC�%��#\ӌX3M�8AUpΩ��� Absence of class I or class II HLA antigens by serologic HLA typing is diagnostic for MHC antigen deficiency. (ferienwohnung-uelsen.de)
  • If major histocompatibility complex (MHC) antigen deficiency is suspected, serologic (not molecular) human leukocyte antigen (HLA) typing is indicated. (ferienwohnung-uelsen.de)
  • Unlike patients with STAT3 deficiency, DOCK8 deficiency patients do not develop … If clinicians suspect that immunodeficiency may be still developing, tests may need to be repeated, with monitoring over time, before a definitive diagnosis is made. (ferienwohnung-uelsen.de)
  • If the type or pattern of infections suggests complement deficiency, the serum dilution required to lyse 50% of antibody-coated red blood cells is measured. (ferienwohnung-uelsen.de)
  • Therapies used in more than one primary immunodeficiency disorder include the following: IV immune globulin (IVIG) is effective replacement therapy in most forms of antibody deficiency. (ferienwohnung-uelsen.de)
  • Immunodeficiency diseases are commonly classified into disorders that affect one or more of the 4 major limbs of the immune system. (medscape.com)
  • Abnormal production of these cells may also be observed in clinical states in which production of abnormal cell types is pathologically excessive (eg, lymphoproliferative diseases such as lymphoma and leukemia ) or in immunodeficiency disorders in which production is aberrantly low. (medscape.com)
  • Primary immunodeficiencies are a group of more than 150 disorders, often inherited, that are caused by intrinsic defects in the immune system. (medscape.com)
  • Gastrointestinal (GI) disorders present in 5% to 50% of patients with primary immunodeficiencies. (medscape.com)
  • Therefore, it is not surprising that GI disorders are common manifestations, and often the initial presenting symptom, in patients with dysfunction in humoral immunity or cell-mediated immunity ( Table 1 ). (medscape.com)
  • Many of these disorders mimic classic forms of disease (in the absence of immunodeficiency) such as celiac sprue, inflammatory bowel disease (IBD), and pernicious anemia but differ in pathogenesis and are often unresponsive to conventional therapies. (medscape.com)
  • This review highlights the GI manifestations of the more common primary immunodeficiency disorders, focusing on the recognition of these diseases, appropriate diagnostic testing, and therapy. (medscape.com)
  • Primary immunodeficiency diseases (PIDDs) are inherited disorders of immune system function that predispose affected subjects to an increased rate and severity of infection, immune dysregulation with autoimmune disease and aberrant inflammatory responses, and malignancy. (guidelinecentral.com)
  • Overview of Immunodeficiency Disorders Immunodeficiency disorders are associated with or predispose patients to various complications, including infections, autoimmune disorders, and lymphomas and other cancers. (msdmanuals.com)
  • Overview of Immunodeficiency Disorders Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. (merckmanuals.com)
  • The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. (ferienwohnung-uelsen.de)
  • Clinicians should determine whether patients have risk factors for infection or a history of symptoms of secondary immunodeficiency disorders and/or risk factors for them. (ferienwohnung-uelsen.de)
  • Primary immunodeficiency disorders are an uncommon cause of recurrent respiratory infections in children, but are thought to be underdiagnosed. (ferienwohnung-uelsen.de)
  • Other characteristic findings tentatively suggest a clinical diagnosis (see table Characteristic Clinical Findings in Some Primary Immunodeficiency Disorders). (ferienwohnung-uelsen.de)
  • Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. (medlineplus.gov)
  • People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). (medlineplus.gov)
  • Immunoglobulins have important roles in humoral immunity, and they consist of 5 major classes or isotypes: immunoglobulin G (IgG), immunoglobulin A (IgA), immunoglobulin M (IgM), immunoglobulin D (IgD), and immunoglobulin E (IgE). (medscape.com)
  • Absence of TNFS5 interrupts B cells differentiation by somatic hypermutation and heavy-chain switch from IgM to other immunoglobulin isotypes. (lu.se)
  • Ig replacement therapy has significantly decreased the frequency of life-threatening infections in patients with X-linked immunodeficiency with hyper-immunoglobulin M (XHIGM). (medscape.com)
  • The disease now known as the Hyper-Immunoglobulin E syndromes (HIES) was first described by Davis et al in 1966. (fidssa.co.za)
  • Severe combined immunodeficiency (SCID) affects one in 75,000 births and is a heterogeneous disorder that arises through genetic defect in genes associated with lymphocyte development and function. (preventiongenetics.com)
  • X-SCID is characterized by failure to thrive, absence of tonsils/lymph nodes, candidiasis, recurrent and persistent infections due to cellular and humoral immunodeficiency. (preventiongenetics.com)
  • 2013). Genetic testing can also be used to distinguish X-SCID from other X-linked immunodeficiencies including agammaglobulinemia (Test #1650), Wiskott-Aldrich syndrome (Test #440), and hyper IgM syndrome (Test #1613). (preventiongenetics.com)
  • Infants with human immunodeficiency virus infection may also mirror symptoms of X-SCID (Allenspach et al. (preventiongenetics.com)
  • a Severe combined immunodeficiencies defined by T cell lymphopenia. (springer.com)
  • Incontinentia pigmenti has also been found to be allelic with hypohidrotic ectodermal dysplasia with severe immunodeficiency (EDAID), an X-linked immunodeficiency syndrome with developmental and immunologic defects in males. (medscape.com)
  • Severe immunodeficiency characterized by lymphopenia was found in two siblings , one of whom was examined in detail. (lookfordiagnosis.com)
  • Severe dwarfism is common in all the aforementioned syndromes as well as abnormalities in head circumference and developmental delay. (sdam-svou-kvartiru.ru)
  • trailer This site complies with the HONcode standard for trustworthy health information: When infections are recurrent or severe, allergists consider immunodeficiency assessment. (ferienwohnung-uelsen.de)
  • We included all diseases included in the 2017 update of the IUIS classification [ 1 ] and split some categories in two parts to ease the lecture. (springer.com)
  • Thousands of individuals living with primary immunodeficiency diseases, including Chronic Granulomatous Disease (CGD), go undiagnosed. (primaryimmune.org)
  • X-Linked Combined Immunodeficiency Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
  • This graph shows the total number of publications written about "X-Linked Combined Immunodeficiency Diseases" by people in this website by year, and whether "X-Linked Combined Immunodeficiency Diseases" was a major or minor topic of these publications. (childrensmercy.org)
  • Below are the most recent publications written about "X-Linked Combined Immunodeficiency Diseases" by people in Profiles. (childrensmercy.org)
  • Other spelling variants do significantly change the instructions, and those types of variants can cause diseases such as PI. (primaryimmune.org)
  • Download this chapter from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition . (primaryimmune.org)
  • 1 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U980, Paris, France. (jci.org)
  • Hyper IgM syndrome can have the following syndromes: Infection/Pneumocystis pneumonia (PCP), which is common in infants with hyper IgM syndrome, is a serious illness. (wikipedia.org)
  • In the early 1960s, following the discovery of the IgG subclasses, certain associations were also recognized between individual subclass deficiencies, decreased ability to respond to certain types of antigens (ie, bacterial polysaccharides), and recurrent infection. (medscape.com)
  • Hyper IgM patients have a defective immune system and cannot produce antibodies in response to infection. (hyperigm.org)
  • The principal clinical manifestation of immunodeficiency is increased susceptibility to infection. (guidelinecentral.com)
  • Chronic mucocutaneous candidiasis, a hereditary immunodeficiency disorder, is persistent or recurring infection with Candida (a fungus) due to malfunction of T cells (a type of white blood cell). (merckmanuals.com)
  • The most common type of candidiasis is a superficial infection of. (merckmanuals.com)
  • These conditions are now recognized as fitting the categories of hyper-IgM syndromes and common variable immunodeficiency (CVID). (medscape.com)
  • The median (range) age at the onset of disease in CVID, HIgM, SIgAD, and XLA was 2 (0-46), 0.91 (0-9), 1 (0-26), and 1 (0-10) years, respectively. (jiaci.org)
  • More than 95% of CVID clinically presents with recurrent sinopulmonary infections just like XLA or other hypogammaglobulinemia syndromes. (ferienwohnung-uelsen.de)
  • Unlike other hyper-IgM syndromes, Type 2 patients identified thus far did not present with a history of opportunistic infections. (wikipedia.org)
  • One would expect opportunistic infections in any immunodeficiency syndrome. (wikipedia.org)
  • Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. (medlineplus.gov)
  • People with X-linked hyper IgM syndrome are prone to infections because they do not have a properly functioning immune system. (medlineplus.gov)
  • In a recent article, published in October 2015, in the peer-reviewed journal, "Immunology Report," researchers reviewed 27 patients at Ann & Robert H. Lurie Children's Hospital of Chicago from March 1985 to November 2013 to test for the types and rates of infections in patients with Chronic Granulomatous Disease (CGD). (primaryimmune.org)
  • Primary immunodeficiencies are distinct from secondary immunodeficiencies that occur, for example, during certain viral infections, after immunosuppression to prevent graft rejection after transplantation, during treatment of systemic autoimmune disease, and in association with cancer chemotherapy. (guidelinecentral.com)
  • In the course of evaluating immunodeficiency, it is critical, as much as possible, to document carefully the foci of infections, the organisms, and the response to treatment. (guidelinecentral.com)
  • Approach to the Patient With Suspected Immunodeficiency Immunodeficiency typically manifests as recurrent infections. (msdmanuals.com)
  • However, recurrent infections are more likely to have causes other than immunodeficiency (eg, inadequate treatment, resistant organisms. (msdmanuals.com)
  • Recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, hyper-IgM syndrome and autoimmunity are the common symptoms of this disease. (bvsalud.org)
  • Question 1: Which skin infections are commonly associated with primary immunodeficiencies? (fidssa.co.za)
  • Pyogenic infections are also common in the Wiscott-Aldrich syndrome (WAS). (fidssa.co.za)
  • While recurrent infections with typical pathogens occurring in a single site are more indicative of an anatomic abnormality, immunodeficiency should be considered when a child has a multiplicity of sinopulmonary, gastrointestinal, and cutaneous infections, meningitis, and sepsis. (ferienwohnung-uelsen.de)
  • In Comèl‐Netherton syndrome, 8/9 described patients showed recurrent or persistent S. aureus skin infections once skin lesions had developed. (ferienwohnung-uelsen.de)
  • X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. (nih.gov)
  • Hyper IgM Syndrome Type 2 is a rare disease. (wikipedia.org)
  • Although Chronic Granulomatous Disease (CGD) is a rare condition, affecting only about 1,200 people in the U.S.,[1] our CGD community is bigger, stronger, and more active than ever! (primaryimmune.org)
  • however, the disease with linkage to band Xp11.21 represents what has been referred to as incontinentia pigmenti type 1 or hypomelanosis of Ito. (medscape.com)
  • PiNSA is our patient organisation which was constituted in 2001 when Mrs Joy Rosario's daughter Gaby Rosario was diagnosed with a Primary Immunodeficiency Disease, Hyper IGM syndrome. (allergyfoundation.co.za)
  • The more you understand about primary immunodeficiency (PI), the better you can live with the disease or support others in your life with PI. (primaryimmune.org)
  • Missense mutations are found most frequently (40%) followed by nonsense (24%), splice site alterations (19%), and small insertions/deletions (17%) with each mutation type being fully penetrant for disease (Puck et al. (preventiongenetics.com)
  • In the past two decades, the life expectancy of individuals with Down syndrome has significantly increased from early 20s to early 60s, creating a population of individuals of which little is known about how well they are protected against infectious disease. (mdpi.com)
  • Autoimmune disease and malignancy are also often seen in a variety of immunodeficiencies. (guidelinecentral.com)
  • When your patients are looking to understand if they are a carrier for specific genetic conditions like cystic fibrosis, spinal muscular atrophy, fragile X syndrome, or Tay-Sachs disease, appropriate genetic screening and actionable results are essential . (questwomenshealth.com)
  • They acquire mucosa-associated lymphoid tissue (MALT) type as a result of an immunologically mediated disorder. (lookformedical.com)
  • X-linked hypogammaglobulinemia (XLH) is a congenital immunodeficiency disorder , which is caused by pathological mutations in the Bruton's tyrosine kinase (BTK). (symptoma.com)
  • This article discusses what was formerly referred to as incontinentia pigmenti type 2, also known as Bloch-Sulzberger syndrome, a rare, X-linked, dominantly inherited disorder of skin pigmentation that is often associated with ocular, dental, and central nervous system abnormalities. (medscape.com)
  • Primary immunodeficiencies can be inherited in one of three different ways depending on the specific disorder: X-linked recessive, autosomal recessive, or autosomal dominant. (primaryimmune.org)
  • In this scenario, where both parents are carriers of an autosomal recessive gene variant, there is a 25% chance (1 in 4) that any child, regardless of gender, will be affected by the disorder. (primaryimmune.org)
  • The ICF syndrome (immunodeficiency, (para)centromeric instability and facial abnormalities) is a rare autosomal recessive disorder with characteristic cytogenetic aberrations of chromosomes 1, 9 and 16 in lymphocytes. (lookfordiagnosis.com)
  • To diagnose the disorder, doctors examine a sample from the infected area under a microscope and do blood tests to check for the mutations that cause the immunodeficiency. (merckmanuals.com)
  • Variants (also known as mutations) in the CD40LG gene cause X-linked hyper IgM syndrome. (medlineplus.gov)
  • Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT . (nih.gov)
  • NEMO mutations have been reported in males with immunodeficiency both with and without anhidrotic ectodermal dysplasia (EDA-ID). (medscape.com)
  • Type 1 results from mutations in the integrin beta-2 gene ( ITGB2 ), encoding CD18 beta-2 integrins. (msdmanuals.com)
  • Type 2 results from mutations in the glucose diphosphate (GDP)-fucose transporter gene. (msdmanuals.com)
  • Type 3 is caused by mutations in the FERMT3 gene (11q13.1), which encodes kindlin-3 in hematopoietic cells. (msdmanuals.com)
  • BACKGROUND: Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ catalytic p110δ (PIK3CD). (bvsalud.org)
  • Type 1 DM is diagnosed mostly in children and young adults as the result of autoimmune destruction of β cells in the pancreas and the resulting lack of insulin. (lecturio.com)
  • Immunodeficiencies affecting cellular and humoral immunity. (springer.com)
  • 1 in 100 - 1,000 people have selective IgA IgA Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. (lecturio.com)
  • Regular IVIG infusions replace the IgG and often result in a reduction or normalization of the serum IgM level. (medscape.com)
  • Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations. (abcam.cn)
  • IgM is the form of antibody that all B cells produce initially before they undergo class switching. (wikipedia.org)
  • In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. (wikipedia.org)
  • Defects in complement regulatory proteins are associated with atypical hemolytic uremic syndrome (HUS) or hereditary angioedema. (unboundmedicine.com)
  • The current study was performed to evaluate and compare demographic and clinical data in the most common types of PAD. (jiaci.org)
  • X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. (medlineplus.gov)
  • Researchers are uncovering ever more details about the complex system of organs, tissues, and different cell types that make up the human immune system. (mdc-berlin.de)
  • Homozygous mutation of this gene results in elevated IgM levels and impairment of B cell class switching. (jax.org)
  • The majority of mantle-cell lymphomas are associated with a t(11;14) translocation resulting in overexpression of the CYCLIN D1 gene (GENES, BCL-1). (lookformedical.com)
  • The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)
  • This article aims to raise awareness of short stature syndromes, the diagnosis of which should be made as early as possible due to the potentially life-threatening sequelae. (sdam-svou-kvartiru.ru)
  • The PTEN hamartoma tumor syndrome (PHTS), Bloom syndrome (BS), microcephalic osteodysplastic primordial dwarfism type II (MOPD-II syndrome) and ligase IV syndrome (Lig4-syndrome) are rare short stature syndromes with potentially fatal outcome. (sdam-svou-kvartiru.ru)
  • The diagnosis of a short stature syndrome should be quickly confirmed by genetic testing because associated comorbidities may require early monitoring and treatment. (sdam-svou-kvartiru.ru)
  • 4 different case studies have been collected to raise awareness of rare short stature syndromes that should be diagnosed early due to their potentially life-threatening complications. (sdam-svou-kvartiru.ru)
  • Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]. (abcam.cn)
  • Healthy B cells efficiently switch to other types of antibodies as needed to attack invading bacteria, viruses, and other pathogens. (wikipedia.org)
  • This results in an overproduction of IgM antibodies and an underproduction of IgA, IgG, and IgE. (wikipedia.org)
  • B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. (medlineplus.gov)
  • Immunodeficiency should also be suspected in infants or young children with chronic diarrhea and failure to thrive, especially when the diarrhea is caused by unusual viruses (eg, adenovirus) or fungi (eg, Cryptosporidium). (ferienwohnung-uelsen.de)
  • Hepatitis (Hepatitis C) Chronic diarrhea Hypothyroidism Neutropenia Arthritis Encephalopathy (degenerative) Different genetic defects cause HIgM syndrome, the vast majority are inherited as an X-linked recessive genetic trait and most with the condition are male. (wikipedia.org)
  • Candidiasis may be the first sign of an immunodeficiency. (fidssa.co.za)
  • The diagnosis of hyper IgM syndrome can be done via the following methods and tests: MRI Chest radiography Pulmonary function test Lymph node test Laboratory test (to measure CD40) In terms of treatment for hyper IgM syndrome, there is the use of allogeneic hematopoietic cell transplantation. (wikipedia.org)
  • This is the first inherited combined immunodeficiency associated with impaired lymphocyte survival . (lookfordiagnosis.com)
  • Is a type of hypergammaglobulinemia that results from an increased production of several different immunoglobulins by plasma cells. (thebloodproject.com)
  • per this NIH scoring system, patients with scores of more than 40 are highly likely to have AD-HIES, particularly when recurrent staphylococcal pneumonia or cutaneous abscesses complicate chronic eczema are present.The NIH Grant Application Scoring System The NIH scoring system uses a 9 point rating scale from 1 = Exceptional to 9 = Poor for the overall impact/pr.ority score as well as the individual review criteria. (sachecucine.it)
  • Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts . (lookfordiagnosis.com)
  • Most cases are sporadic, but inherited types have been linked to chromosomes Chromosomes In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (lecturio.com)