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.
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).
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.
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 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.
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.
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).
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.
Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV).
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.
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.
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.
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 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.
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.
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.
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.
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.
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.
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.
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)
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Inhibitors of reverse transcriptase (RNA-DIRECTED DNA POLYMERASE), an enzyme that synthesizes DNA on an RNA template.
Established cell cultures that have the potential to propagate indefinitely.
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.
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.
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.
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.
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.
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.
Immune status consisting of non-production of HIV antibodies, as determined by various serological tests.
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.

Transcription factors TFE3 and TFEB are critical for CD40 ligand expression and thymus-dependent humoral immunity. (1/20)

TFE3 and TFEB are broadly expressed transcription factors related to the transcription factor Mitf. Although they have been linked to cytokine signaling pathways in nonlymphoid cells, their function in T cells is unknown. TFE3-deficient mice are phenotypically normal, whereas TFEB deficiency causes early embryonic death. We now show that combined inactivation of TFE3 and TFEB in T cells resulted in a hyper-immunoglobulin M syndrome due to impaired expression of CD40 ligand by CD4(+) T cells. Native TFE3 and TFEB bound to multiple cognate sites in the promoter of the gene encoding CD40 ligand (Cd40lg), and maximum Cd40lg promoter activity and gene expression required TFE3 or TFEB. Thus, TFE3 and TFEB are direct, physiological and mutually redundant activators of Cd40lg expression in activated CD4(+) T cells critical for T cell-dependent antibody responses.  (+info)

Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males. (2/20)

All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c. 654C->A transversion of the CD40L gene that predicts premature termination of CD40L synthesis. This report points to the importance of early carrier detection and genetic counseling in families with X-linked primary immunodeficiency diseases. We propose that the c.654C->A sequence variant may associate with severe X-HIGM phenotype.  (+info)

The structural basis of hyper IgM deficiency - CD40L mutations. (3/20)

X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency characterised by an inability to produce immunoglobulins of the IgG, IgA and IgE isotypes. It is caused by mutations of CD40 ligand (CD40L, CD154), expressed on T-lymphocytes. The interaction of CD40L on T-cells and its receptor CD40 on B-cells is essential for lymphocyte signalling leading to immunoglobulin class switching and B-cell maturation. To understand the structural basis for XHIGM, we utilised bioinformatics methods to analyse all the known CD40L missense mutations at both the sequence and structural level. Our results demonstrate that the 35 different missense mutations have diverse effects on CD40L structure and function, affecting structural disorder and aggregation tendencies, stability maintaining contacts and electrostatic properties. Several mutations also affect residues essential in receptor binding and trimerisation. Experimental study of effects of mutations is laborious and time-consuming and at the structural level often almost impossible. By contrast, precise and useful information about effects of mutations on protein structure and function can readily be obtained by theoretical methods. In this study, all the XHIGM causing missense mutations could be explained in terms of CD40L structure and function. Thus, the molecular basis of the syndrome could be elucidated.  (+info)

CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance. (4/20)

Hyper-IgM (HIGM) syndromes are primary immunodeficiencies characterized by defects of class switch recombination and somatic hypermutation. HIGM patients who carry mutations in the CD40-ligand (CD40L) gene expressed by CD4(+) T cells suffer from recurrent infections and often develop autoimmune disorders. To investigate the impact of CD40L-CD40 interactions on human B cell tolerance, we tested by ELISA the reactivity of recombinant antibodies isolated from single B cells from three CD40L-deficient patients. Antibody characteristics and reactivity from CD40L-deficient new emigrant B cells were similar to those from healthy donors, suggesting that CD40L-CD40 interactions do not regulate central B cell tolerance. In contrast, mature naive B cells from CD40L-deficient patients expressed a high proportion of autoreactive antibodies, including antinuclear antibodies. Thus, CD40L-CD40 interactions are essential for peripheral B cell tolerance. In addition, a patient with the bare lymphocyte syndrome who could not express MHC class II molecules failed to counterselect autoreactive mature naive B cells, suggesting that peripheral B cell tolerance also depends on major histocompatibility complex (MHC) class II-T cell receptor (TCR) interactions. The decreased frequency of MHC class II-restricted CD4(+) regulatory T cells in CD40L-deficient patients suggests that these T cells may mediate peripheral B cell tolerance through CD40L-CD40 and MHC class II-TCR interactions.  (+info)

The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination. (5/20)

V(D)J recombination is essential to produce an Ig repertoire with a large range of Ag specificities. Although NF-kappaB-binding sites are present in the human and mouse IgH, Igkappa, and Iglambda enhancer modules and RAG expression is controlled by NF-kappaB, it is not known whether NF-kappaB regulates V(D)J recombination mechanisms after RAG-mediated dsDNA breaks. To clarify the involvement of NF-kappaB in human V(D)J recombination, we amplified Ig gene rearrangements from individual peripheral B cells of patients with X-linked anhidrotic ectodermal dysplasia with hyper-IgM syndrome (HED-ID) who have deficient expression of the NF-kappaB essential modulator (NEMO/Ikkgamma). The amplification of nonproductive Ig gene rearrangements from HED-ID B cells reflects the influence of the Ikkgamma-mediated canonical NF-kappaB pathway on specific molecular mechanisms involved in V(D)J recombination. We found that the CDR3(H) from HED-ID B cells were abnormally long, as a result of a marked reduction in the exonuclease activity on the V, D, and J germline coding ends, whereas random N-nucleotide addition and palindromic overhangs (P nucleotides) were comparable to controls. This suggests that an intact canonical NF-kappaB pathway is essential for normal exonucleolytic activity during human V(D)J recombination, whereas terminal deoxynucleotide transferase, Artemis, and DNA-dependent protein kinase catalytic subunit activity are not affected. The generation of memory B cells and somatic hypermutation were markedly deficient confirming a role for NF-kappaB in these events of B cell maturation. However, selection of the primary B cell repertoire appeared to be intact and was partially able to correct the defects generated by abnormal V(D)J recombination.  (+info)

Regulation of aicda expression and AID activity: relevance to somatic hypermutation and class switch DNA recombination. (6/20)

Expression and activity of activation-induced cytidine deaminase (AID) encoded by the aicda gene are essential for immunoglobulin (Ig) gene somatic hypermutation (SHM) and class switch DNA recombination (CSR). SHM and CSR unfold, in general, in germinal centers and/are central to the maturation of effective antibody responses. AID expression is induced by activated B-cell CD40 signaling, which is critical for the germinal center reaction, and is further enhanced by other stimuli, including interleukin-4 (IL-4) secreted from CD4+ T cells or Toll-like receptor (TLR)-activating bacterial and/or viral molecules. Integration of different intracellular signal transduction pathways, as activated by these stimuli, leads to a dynamic aicda-regulating program, which involves both positively acting trans-factors, such as Pax5, HoxC4, E47, and Irf8, and negative modulators, such as Blimp1 and Id2, to restrict aicda expression primarily to germinal center B cells. The phosphatidylinositol 3-kinase (PI 3-K), which functions downstream of activated B-cell receptor (BCR) signaling, likely plays an important role in triggering the downregulation of aicda expression in postgerminal center B cells and throughout plasmacytoid differentiation. In B cells undergoing SHM and CSR, AID activity, and, possibly, AID targeting to the Ig locus are regulated at a posttranslational level, including AID dimerization/oligomerization, nuclear/cytoplasmic AID translocation, and phosphorylation of the AID Ser38 residue by protein kinase A (PKA). Here, we discuss the role of B-cell activation signals, transcription regulation programs, and posttranslational modifications in controlling aicda expression and AID activity, thereby delineating an integrated model of modulation of SHM and CSR in the germinal center reaction.  (+info)

Onychomadesis in a patient with immunoglobulin class switch recombination deficiency. (7/20)

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Stochastic properties of processive cytidine DNA deaminases AID and APOBEC3G. (8/20)

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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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

"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.

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.

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.

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.

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 ... In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. This ... Hyper IgM syndrome can have the following syndromes: Infection/Pneumocystis pneumonia (PCP), which is common in infants with ...
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 ... In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. This ... Hyper IgM syndrome can have the following syndromes: Infection/Pneumocystis pneumonia (PCP), which is common in infants with ...
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 ... In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. This ... Hyper IgM syndrome can have the following syndromes: Infection/Pneumocystis pneumonia (PCP), which is common in infants with ...
Rosen discovered, early in his career, the cause of X-linked hyper-IgM syndrome. He also worked on X-linked agammaglobulinaemia ... He and Janeway pioneered the study of primary immunodeficiency diseases at Boston Children's Hospital. ... the discovery of gamma globulin therapy and primary immunodeficiency diseases at Boston Children's Hospital". The Journal of ...
GeneReviews/NCBI/NIH/UW entry on X-Linked Hyper IgM Syndrome or Immunodeficiency with Hyper-IgM, Type 1 (Articles with short ... Subauste CS (February 2002). "CD154 and type-1 cytokine response: from hyper IgM syndrome to human immunodeficiency virus ... 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 ...
Hypogammaglobulinemia Common variable immunodeficiency (CVID) Hyper-IgM syndromes Barton JC, Bertoli LF, Acton RT (June 2003 ... Depending on a clinical presentation, complete blood count, test for total serum immunoglobulins (IgG, IgA, IgM and subclass ... IgG subclass deficiencies are also an integral component of other well-known primary immunodeficiency diseases, such as Wiskott ... with normal total IgG and IgM immunoglobulins and other components of the immune system being at normal levels. These ...
... is a condition caused by mutations in the Rac2 gene. Immunodeficiency with hyper-IgM List ... "Orphanet: Neutrophil immunodeficiency syndrome". www.orpha.net. Retrieved 18 March 2019. Rapini, Ronald P.; Bolognia, Jean L.; ... Noninfectious immunodeficiency-related cutaneous conditions, Congenital defects of phagocyte number, function, or both, ...
2002). "Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiency". Clin ...
Hyper-IgM syndrome is a primary immunodeficiency disorder characterized by decreased serum levels of immunoglobulin (Ig) M and ... 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 ... Currently, treatment for hyper-IgM syndrome involves the replacement of missing immunoglobulins, as well as other therapies to ...
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5". omim.org. Retrieved 16 November 2016. "OMIM Entry - 608184 - IMMUNODEFICIENCY ... In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. This ... Hyper IgM syndrome can have the following syndromes: Infection/Pneumocystis pneumonia (PCP), which is common in infants with ... "Hyper-Immunoglobulin M (Hyper-IgM) Syndromes , NIH: National Institute of Allergy and Infectious Diseases". www.niaid.nih.gov. ...
Immunodeficiency with hyper IgM - 308230 Park LC X-linked Immunodeficiency with hyper IgM at eMedicine Lichtman, Andrew H.; ... 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 ... Immunodeficiency with hyper IgM type 4 is poorly characterized. All that is known is that there is an excess of IgM in the ...
... common variable immunodeficiency (CVID), hyper-IgM syndromes, IgG subclass deficiency, isolated non-IgG immunoglobulin ... 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 ... cured a patient with WHIM syndrome, a primary immunodeficiency disease. WHIM is autosomal dominant and is caused by a gain-of- ...
Immunodeficiency patients Seneviratne is also involved in several molecular genetic studies on patients with Hyper IgM syndrome ... Hyper IgE syndrome, CVID, Complement deficiencies, Food Allergy and Mast Cell Activation Disorder. In addition Seneviratne has ... He is currently the Principal Investigator of the STILLPAD-UK study, a prospective study of lung disease in Immunodeficiency. ... "Mast Cell Disorders in Ehlers-Danlos Syndrome (for Non-experts) , The Ehlers Danlos Society". The Ehlers Danlos Society. ...
While still a rare disease, this makes it more common than many genetic immunodeficiency syndromes such as hyper-IgM syndrome ... "Wiskott-Aldrich Syndrome: Immunodeficiency Disorders: Merck Manual Professional". Retrieved 2008-03-01. Derry JM, Ochs HD, ... The syndrome is named after Dr. Alfred Wiskott (1898-1978), a German pediatrician who first noticed the syndrome in 1937, and ... It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original ...
Hyper IgM syndrome, X-linked agammaglobulinemia, IPEX syndrome and autosomal dominante Hyper IgE syndrome. To improve the long- ... the gene causing autosomal dominant Hyper IgE syndrome if mutated. In 1995, he moved the immunodeficiency clinic from the ... Recently, he focused on the gene Uracil-DNA glycosylase, causing a rare form of autosomal recessive Hyper IgM syndrome, and on ... Wiskott-Aldrich syndrome, chronic granulomatous disease, and X-linked hyper-immunoglobulin M syndrome. The Ochs / Torgerson Lab ...
Normal numbers of B cells with decreased IgG and IgA and increased IgM: Hyper-IgM syndromes Normal numbers of B cells with ... syndrome Nijmegen breakage syndrome Bloom syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1, 2 ... Singleton-Merten syndrome TNF receptor associated periodic syndrome (TRAPS) Hyper-IgD syndrome (Mevalonate kinase deficiency) ... Cartilage-hair hypoplasia Schimke syndrome MYSM1 deficiency MOPD1 deficiency EXTL3 deficiency Hyper IgE syndromes Job syndrome ...
Hyper IgM syndrome can be considered a form of dysgammaglobulinemia, because it results from a failure of transformation from ... "Hyper Immunoglobulin M Immunodeficiency (Dysgammaglobulinemia)", Journal of Clinical Investigation, 1979 August; 64(2): 385-391 ... Immunodeficiency "Dysgammaglobulinemia" at Dorland's Medical Dictionary Dysgammaglobulinemia at eMedicine Dictionary " ... IgM production to production of other antibodies, and so the condition can be interpreted as a reduction of the other types. ...
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5". omim.org. Retrieved 16 November 2016. "OMIM Entry - 608184 - IMMUNODEFICIENCY ... All forms of hyper-IgM syndrome are rare. According to the US X-HIGM registry, the prevalence of X-linked hyper IgM syndrome (X ... Five types of hyper IgM syndrome have been characterized: Hyper-IgM syndrome type 1 (X-linked), characterized by mutations of ... In people with hyper IgM syndromes, the B cells keep making IgM antibodies because they can't switch to a different antibody. ...
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 ... 2006). "Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary ... The most common such immunodeficiency is inherited selective IgA deficiency, occurring between 1 in 100 and 1 in 1000 persons, ...
Common variable immunodeficiency, Selective immunoglobulin A deficiency and Hyper IgM syndrome), Molecular diagnosis of ... Founding Member of Iranian Primary Immunodeficiency Association. Chairman of Iranian Primary Immunodeficiency Association, ... He also participated in writing of 6 books on the subject of Primary immunodeficiency diseases, of which 3 are in Persian, two ... "Global Primary Immunodeficiency Resource Center". Info4pi.org. Archived from the original on 2013-10-22. Retrieved 2013-10-18 ...
"X-linked hyper-IgM syndrome". Orphanet. Retrieved 18 March 2019. James, William D.; Berger, Timothy G.; et al. (2006). Andrews ... Immunodeficiency with hyperimmunoglobulin M is a rare disorder characterized by recurrent infections, low or absent IgG, IgE, ... and IgA levels, and normal or elevated levels of IgM and IgD.: 84 Immunoglobulin M deficiency Immunoglobulin M Skin lesion List ... Noninfectious immunodeficiency-related cutaneous conditions, All stub articles, Cutaneous condition stubs). ...
"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 ... NEMO deficiency syndrome information Archived 2016-06-10 at the Wayback Machine, Great Ormond Street Hospital for Children May ...
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 ... This increases the production and release of IgM into circulation. The B cell and T cell numbers are within normal limits. ... However, the number of acquired immunodeficiencies exceeds the number of PIDs. It has been suggested that most people have at ...
Hyper IgM syndrome Hyper-IgD syndrome Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM ... Flynn-Aird syndrome Foal immunodeficiency syndrome Foerster's syndrome Foix-Alajouanine syndrome Foix-Chavany-Marie syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ...
Immunodeficiency with hyper-immunoglobulin M Immunoglobulin M List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L ... The immunodeficiency has been associated with some clinical disorders including recurrent infections, atopy, Bloom's syndrome, ... Goldstein MF, Goldstein AL, Dunsky EH, Dvorin DJ, Belecanech GA, Shamir K (2006). "Selective IgM immunodeficiency: ... "Revised reference range IgM" (PDF). Retrieved 30 December 2011. The Merck Manual of Diagnosis and Therapy. Merck Sharp & Dohme ...
... with hyper-IgM; 308230; TNFSF5 Immunodeficiency-centromeric instability-facial anomalies syndrome; 242860; DNMT3B ... PNP Immunodeficiency with hyper IgM, type 4; 608106; UNG Immunodeficiency with hyper-IgM, type 2; 605258; AICDA ... SLC6A20 Hyper-IgD syndrome; 260920; MVK Hyper-IgE recurrent infection syndrome; 147060; STAT3 Hyper-IgE recurrent infection ... Immunodeficiency with hyper-IgM, type 3; 606843; TNFRSF5 Immunodeficiency, common variable, 1; 607594; ICOS Immunodeficiency, ...
... also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic ... "OMIM Entry - # 243700 - HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE". www.omim.org. Archived from the original ... because people with DOCK8 deficiency have low levels of IgM and an impaired secondary immune response. IgG and IgA levels are ... and affected individuals do not have the characteristic facial features of those with autosomal dominant hyper-IgE syndrome. ...
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- ...
The presence of IgM or, rarely, IgG is one of the obligate criteria for a diagnosis of Schnitzler's syndrome. Immunodeficiency ... 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 ... In contrast, polymeric IgM forms efficiently in the absence of the J chain. The predominant form of human and mouse IgM is the ...
"Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ('FILS syndrome ... 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 ... polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature) Primary ...
X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. Explore ... Genetic Testing Registry: Hyper-IgM syndrome type 1 Genetic and Rare Diseases Information Center. *Immunodeficiency with hyper ... 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 ...
... hyper IgM syndrome; HPV: human papillomavirus; Ig: immunoglobulins; MHC: major histocompatibility complex; Nl: normal; NK: ... 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 ... Immunodeficiencies affecting cellular and humoral immunity. a Severe combined immunodeficiencies defined by T cell lymphopenia ...
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 ... In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. This ... Hyper IgM syndrome can have the following syndromes: Infection/Pneumocystis pneumonia (PCP), which is common in infants with ...
Immunodeficiency is the genetic or acquired failure of the patients innate or adaptive immunity, resulting in an increased ... X-linked immunodeficiency with hyper IgM syndrome (XHM), Good syndrome, and Wiskott-Aldrich syndrome (WAS). Appropriate ... Correction of the hyper-IgM syndrome after liver and bone marrow transplantation. N Engl J Med. 2000 Feb 3. 342(5):320-4. [QxMD ... Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997 Jul. 131(1 pt 1):47-54. [QxMD MEDLINE Link]. ...
Severe combined immunodeficiency (SCID) *22q11 deletion (DiGeorge syndrome). *X-linked Hyper-IgM ... Primary immunodeficiencies: *Are a diverse group of genetically determined defects that can occur across all parts of the ... 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 ...
... also known as Bloch-Sulzberger syndrome, a rare, X-linked, dominantly inherited disorder of skin pigmentation that is often ... Hyper-IgM syndrome is also reported in EDA-ID.. Incontinentia pigmenti can also cause immunodeficiency in women and this may ... Incontinentia pigmenti (Bloch-Sulzberger-syndrome): case report and differential diagnosis to related dermato-ocular syndromes ... an X-linked immunodeficiency syndrome with developmental and immunologic defects in males. Puel et al found that the 110_ ...
Key words: Common variable immunodeficiency. Immunoglobulin A deficiency. Infection. Hyper-IgM syndrome. X-linked ... immunodeficiency (CVID), hyper IgM syndrome (HIgM), selective IgA deficiency (SIgAD), and X-linked agammaglobulinemia (XLA) who ... 7Acquired Immunodeficiency Research Center, Al-Zahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran. 8 ... Background: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders (PID), with a ...
IgM) syndrome. The absence of the interaction between CD40L, expressed ... ... This leads to a fatal immunodeficiency for which no cure exists. For these reasons, the CD40L gene is a good candidate for gene ... Even though gene therapy is one of the most promising approaches to cure human hyper IgM syndrome, these results suggest that ... Mutations in the CD40 ligand (CD40L) are responsible for human hyper immunoglobulin M (IgM) syndrome. The absence of the ...
Hyper-IgM syndrome (.... ...nosis of a form of HIM should be considered in... ... Primary immunodeficiencies occur in as many as 1:2000 live births.. *The principal clinical manifestation of immunodeficiency ... Primary immunodeficiencies are distinct from secondary immunodeficiencies that occur, for example, during certain viral ... Primary immunodeficiency diseases (PIDDs) are inherited disorders of immune system function that predispose affected subjects ...
... also known as Bloch-Sulzberger syndrome, a rare, X-linked, dominantly inherited disorder of skin pigmentation that is often ... Hyper-IgM syndrome is also reported in EDA-ID.. Incontinentia pigmenti can also cause immunodeficiency in women and this may ... Incontinentia pigmenti (Bloch-Sulzberger-syndrome): case report and differential diagnosis to related dermato-ocular syndromes ... an X-linked immunodeficiency syndrome with developmental and immunologic defects in males. Puel et al found that the 110_ ...
Hyper IGM (CD40L-deficient) * Latex Allergy * Oral Allergy Syndrome-OAS * Primary Immunodeficiency Diseases (PIDD) ... Design/childrens/conditions/Hyper IGM,/CMC_Design/childrens/conditions/Primary Immunodeficiency Diseases PID,/CMC_Design/ ... Design/childrens/conditions/Oral Allergy Syndrome - OAS,/CMC_Design/childrens/conditions/Common Variable Immunodeficiency CVID ... Program cares for children with immune system deficiencies such as DiGeorge Syndrome or common variable immunodeficiency (CVID ...
DiGeorge syndrome (DGS), Hyper IgM syndrome (HIGM), Wiskott Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). We ... Biobanking Study in Immunodeficiency Patients Rochester, MN Primary immunodeficiencies (PID) are diseases that affect any part ... Genetic studies in Common Variable Immunodeficiency (CVID) Rochester, MN Common variable immunodeficiency (CVID) is a ... Assessment of Sleep Disturbance and Sleep Disordered Breathing in Primary Immunodeficiency Disorders Jacksonville, FL The ...
Primary immunodeficiencies can be inherited in one of three different ways depending on the specific disorder: X-linked ... X-linked hyper IgM syndrome (HIGM), X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID), and ataxia- ... Evidence also supports the efficacy of PGD in the detection of other immunodeficiencies such as Wiskott-Aldrich syndrome, ... Hyper IgE syndrome, due to STAT3 loss of function (Jobs syndrome).. *Warts, hypogammaglobulinemia, infections, and ...
Hyper-IgM Syndrome - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version. ... Hyper-IgM syndrome is a primary immunodeficiency disorder Primary immunodeficiency Immunodeficiency disorders involve ... X-linked hyper-IgM syndrome In X-linked hyper-IgM syndrome, B cells produce only IgM, not other types of immunoglobulin. Levels ... Immune Deficiency Foundation: Hyper-IgM syndrome: Comprehensive information on hyper-IgM syndrome, including information on ...
Hyper IgM Syndrome (15) *. X-Linked Agammaglobulinemia (12) *. IgG Subclass Deficiency (11) ... We understand the challenges in finding a specialist who treates patients with a primary immunodeficiency disease. IDF ... There are more than 450 primary immunodeficiencies recognized by the International Union of Immunological Societies. Discover ... Thousands of individuals living with primary immunodeficiency diseases, including Chronic Granulomatous Disease (CGD), go ...
Hyper-IgM Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... Hyper-IgM syndrome is a primary immunodeficiency disorder Primary Immunodeficiencies Immunodeficiency disorders are associated ... Autosomal recessive hyper-IgM syndrome In autosomal recessive hyper-IgM syndrome with CD40 mutation, manifestations are similar ... Treatment of hyper-IgM syndrome usually includes immune globulin Replacement of missing immune components Immunodeficiency ...
... patients and their families concerned with primary immunodeficiency diseases (PID). ... Hyper IgM Immunodeficiency. Transcobalamin II deficiency and hypogammaglobulinemia. X-linked agammaglobulinemia. X-linked ... Immunodeficiency caused by hypercatabolism of immunoglobulin. Immunodeficiency caused by excessive loss of immunoglobulins ( ... Therefore, our mission is to enable patients with primary immunodeficiency diseases to live their lives to its full potential ...
Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.. Saiki O, Tanaka T ... Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.. ... The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in ... De novo mutation causing X-linked hyper-IgM syndrome: a family study in Taiwan.. Ma YC, Lee WI, Shyur SD, Lin SC, Huang LH, Wu ...
Hyper IgM Immunodeficiency Syndrome Hyper IgM Syndrome Hyper-IgM Immunodeficiency Syndromes Hyper-IgM Syndrome Hyper-IgM ... Hyper-IgM Syndrome. Hyper-IgM Syndrome 2. Hyper-IgM Syndrome 3. Hyper-IgM Syndrome 5. Hyper-IgM Syndrome 5s. Hyper-IgM ... Hyper IgM Syndrome. Hyper IgM Syndrome 2. Hyper IgM Syndrome 3. Hyper IgM Syndrome 5. Hyper-IgM Immunodeficiency Syndrome Type ... Hyper IgM Syndrome 5 Hyper-IgM Immunodeficiency Syndrome Type 5 Hyper-IgM Syndrome 5 Hyper-IgM Syndrome 5s Immunodeficiency ...
With CVID and hyper IgM syndrome, antiviral and antifungal agents are constantly used (they can also be used in courses, the ... Immunodeficiency in Children. 15.07.2021. stopseizuresmeds Medicine. What is Immunodeficiency in Children?. Immunodeficiency in ... Children with X-linked hyper IgM syndrome need treatment with bone marrow transplant from an HLA-identical donor. ... Causes of Immunodeficiency in Children. Primary immunodeficiencies are caused by gene defects that affect the immune system. ...
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 ...
Primary immunodeficiency disorders [4] * Severe combined immunodeficiency disorder. *Hyper IgM syndrome. *Immunosuppressive ... X-linked Immunodeficiency With Hyper IgM Clinical Presentation. .. https://emedicine.medscape.com/article/889104-clinical. ... It is an HIV-associated condition but may be caused by other immunodeficiencies, including primary immunodeficiency disorders, ... Primary immunodeficiencies or hematological malignancies (e.g., acute lymphocytic leukemia). *Following solid organ , or stem ...
C) Hyper-IgM syndrome. D) Selective IgA deficiency. E) Severe combined immunodeficiency ...
IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3. LYMPHOPROLIFERATIVE SYNDROME 2. OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7. ...
Type 1 Hyper-IgM Immunodeficiency Syndrome 100% * Cell Transplantation 60% * Survival 14% ... 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). ...
Hyper-IgM syndrome is a primary immunodeficiency disorder. It can be inherited in the following ways:. As an X-linked disorder ... X-linked hyper-IgM syndrome. In X-linked hyper-IgM syndrome, B cells produce only IgM, they do not produce any other type of ... immunoglobulin M (IgM). Hyper-IgM syndrome is characterized by normal or elevated levels of immunoglobulin M (IgM) and ... Most cases of hyper-IgM syndrome (excess immunoglobulin M) are linked to the X chromosome.. The type of involvement of people ...
Learn and reinforce your understanding of Hyper IgM syndrome. ... Hyper IgM syndrome Videos, Flashcards, High Yield Notes, & ... Hyper IgM syndrome is a problem where B cells are unable to undergo antibody class-switching, meaning that they can produce IgM ... Comprehensive review of autoantibodies in patients with hyper-IgM syndrome Cellular & Molecular Immunology (2018) ... so all IgM antibodies have the same constant region, but IgM and IgA constant regions are different. ...
  • Intravenous immunoglobulin (IVIG) replacement therapy may benefit patients with combined immunodeficiencies, such as severe combined immunodeficiency (SCID), X-linked immunodeficiency with hyper IgM syndrome (XHM), Good syndrome, and Wiskott-Aldrich syndrome (WAS). (medscape.com)
  • The most severe manifestations occur within the first 2 years of life as various types of severe combined immunodeficiency (SCID). (medscape.com)
  • See Omenn Syndrome and Purine Nucleoside Phosphorylase Deficiency for a discussion of other forms of SCID. (medscape.com)
  • These immune deficiency diseases are thought to be rare and include: Severe combined immunodeficiency (SCID), leukocyte adhesion deficiency (LAD), X-linked Agammaglobulinemia (XLA), common variable immune deficiency (CVID), DiGeorge syndrome (DGS), Hyper IgM syndrome (HIGM), Wiskott Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). (mayo.edu)
  • Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections, diarrhea, dermatitis, and failure to thrive. (medscape.com)
  • 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)
  • Severe Combined Immunodeficiency (SCID) Severe combined immunodeficiency is a primary immunodeficiency disorder resulting in low levels of antibodies (immunoglobulins) and low or no T cells (lymphocytes). (merckmanuals.com)
  • CIRM funds many projects seeking to better understand Severe Combined Immune Deficiency (SCID) and other primary immunodeficiency diseases to translate those discoveries into new therapies. (ca.gov)
  • Severe combined immune deficiency or SCID is an example of a primary immunodeficiency. (ca.gov)
  • a Severe combined immunodeficiencies defined by T cell lymphopenia. (springer.com)
  • Allogeneic bone marrow transplantation has become the standard of care for certain patients with SCIDs (eg, X-linked severe combined immunodeficiency [XSCID], ADA deficiency). (medscape.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)
  • 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)
  • 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. (msdmanuals.com)
  • It is the prototype of the primary immunodeficiency diseases and is caused by numerous molecular defects that lead to severe compromise in the number and function of T cells, B cells, and occasionally natural killer (NK) cells. (medscape.com)
  • Severe immunodeficiency characterized by lymphopenia was found in two siblings , one of whom was examined in detail. (lookfordiagnosis.com)
  • 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)
  • 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)
  • Hyper-IgM syndrome is an immunoglobulin (Ig) deficiency characterized by normal or elevated serum IgM levels and decreased levels or absence of other serum immunoglobulins, resulting in susceptibility to bacterial infections. (msdmanuals.com)
  • The main manifestation of primary immunodeficiency in children is an abnormal susceptibility to infections, in which other manifestations of immune deficiency may be small or absent. (stop-seizures-meds.com)
  • In other B-cell and T-cell disorders, additional anomalies may predominate, and clinical manifestations suggestive of immunodeficiency may occur late in life. (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)
  • Combined humoral and cellular immunity deficiencies Immunodeficiency disorders are associated with or predispose patients to various complications, including infections, autoimmune disorders, and lymphomas and other cancers. (msdmanuals.com)
  • It is an HIV-associated condition but may be caused by other immunodeficiencies , including primary immunodeficiency disorders , immunodeficiency resulting from malignancy , following a solid organ or stem cell transplant, or secondary to the long-term use of immunosuppressants such as high-dose steroids . (amboss.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)
  • 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)
  • 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)
  • They have poor antibody responses to polysaccharide antigens but elevated levels of serum immunoglobulin A (IgA) and immunoglobulin E (IgE) with low levels of immunoglobulin M (IgM). (medscape.com)
  • Mutations in the CD40 ligand (CD40L) are responsible for human hyper immunoglobulin M (IgM) syndrome. (nki.nl)
  • Hyper-IgM syndrome is characterized by normal or high levels of immunoglobulin M (IgM) and decreased levels or absence of other immunoglobulins. (msdmanuals.com)
  • In X-linked hyper-IgM syndrome, B cells produce only IgM, not other types of immunoglobulin. (msdmanuals.com)
  • Dermatitis was evident in all patients with hyper-immunoglobulin (Ig) E syndrome and Wiskott-Aldrich syndrome. (medscape.com)
  • Most cases of hyper-IgM syndrome (excess immunoglobulin M) are linked to the X chromosome. (sym-bio.com)
  • People with hyper-IgM syndrome are usually given immunoglobulin concentrates to replace some of the immunoglobulins that they lack. (sym-bio.com)
  • The Immunology Program cares for children with immune system deficiencies such as DiGeorge Syndrome or common variable immunodeficiency (CVID). (childrens.com)
  • Common variable immunodeficiency (CVID) is a clinically, genetically and immunologically heterogeneous primary immunodeficiency disease (PID). (mayo.edu)
  • Common variable immunodeficiency. (jiaci.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)
  • NBS is characterized by microcephaly with growth retardation, normal or impaired intelligence, birdlike facies, increased susceptibility to infection, humoral and cellular immunodeficiency, and high risk for lymphatic tumor development. (medscape.com)
  • The principal clinical manifestation of immunodeficiency is increased susceptibility to infection. (guidelinecentral.com)
  • The lack of these other immunoglobulins makes people with hyper-IgM syndrome less able to fight off infection. (msdmanuals.com)
  • Some people with some forms of this syndrome receive trimethoprim / sulfamethoxazole (an antibiotic) to avoid Pneumocystis jirovecii infection. (sym-bio.com)
  • Hyper IgM patients have a defective immune system and cannot produce antibodies in response to infection. (hyperigm.org)
  • High or normal IgM levels accompanied by low levels or the absence of other immunoglobulins support the diagnosis. (sym-bio.com)
  • Hyper IgM syndrome is a problem where B cells are unable to undergo antibody class-switching, meaning that they can produce IgM antibodies , or immunoglobulins, but struggle to produce other types of antibodies, and that leaves individuals at risk for certain infections. (osmosis.org)
  • congenital and metabolic diseases (uremia, Down syndrome, etc. (stop-seizures-meds.com)
  • 4] Skin infections were significantly more prevalent in those with congenital defects in phagocyte number, function, or both, as well as in those with well-defined immunodeficiencies. (medscape.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)
  • 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)
  • The absence of the interaction between CD40L, expressed by T lymphocytes, and the CD40 receptor present on the surface of B cells is responsible for the inability of B cells to carry out the isotype switch from IgM to the other Ig classes. (nki.nl)
  • In the presence of cytokines, normal CD40 ligand interacts with B cells and thus signals them to switch from producing IgM to producing IgA, IgG, or IgE. (msdmanuals.com)
  • In X-linked hyper-IgM syndrome, T cells lack functional CD40 ligand and cannot signal B cells to switch. (msdmanuals.com)
  • In autosomal recessive hyper-IgM syndrome with CD40 mutation, manifestations are similar to those of the X-linked form. (msdmanuals.com)
  • Primary immunodeficiencies (PID) are diseases that affect any part of multiple components of the immune system, resulting in abnormal and/or impaired immune responses and increased susceptibility to life threatening infections, autoimmune disease and neoplasias. (mayo.edu)
  • The samples collected in this study will provide a valuable and unique sample database that will permit formulation of research protocols aimed at evaluating the biological underpinnings of immune competence and function in PID and the development of novel methods for the assessment of immune parameters in diagnosis of these immunodeficiency diseases. (mayo.edu)
  • Download this chapter from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition . (primaryimmune.org)
  • Thousands of individuals living with primary immunodeficiency diseases, including Chronic Granulomatous Disease (CGD), go undiagnosed. (primaryimmune.org)
  • Primary immunodeficiencies in children are less common, they are genetically determined diseases, which is caused by a violation of some or one of the immune defense mechanisms. (stop-seizures-meds.com)
  • A committee of experts, initially sponsored by the World Health Organization (WHO), meets every 2 years with the goal to classify the group of primary immunodeficiency diseases according to current understanding of the pathways that become defective in the immune system. (medscape.com)
  • 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)
  • 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)
  • Ataxialike disorder (ATLD) syndrome involves a mutation in meiotic recombination 11 homolog (MRE11). (medscape.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)
  • Management of PCP includes high-dose trimethoprim/sulfamethoxazole ( TMP/SMX ), treatment of the underlying immunodeficiency disorder, and, in some cases, adjunctive glucocorticoids . (amboss.com)
  • As an X-linked disorder: that is, as a hereditary immunodeficiency due to a mutation in a gene located on the X (sexual) chromosome. (sym-bio.com)
  • 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)
  • Omenn syndrome is the result of mutations in the genes coding for recombinases (recombination activating genes). (medscape.com)
  • Even though gene therapy is one of the most promising approaches to cure human hyper IgM syndrome, these results suggest that when we modify very tightly regulated genes such as cytokines or other growth factors, particular care has to be taken to avoid excessive stimulation of the target cells. (nki.nl)
  • Primary immunodeficiencies are caused by gene defects that affect the immune system. (stop-seizures-meds.com)
  • In other cases, defects are combined, leading to immunodeficiency. (stop-seizures-meds.com)
  • Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]. (abcam.cn)
  • Defects in complement regulatory proteins are associated with atypical hemolytic uremic syndrome (HUS) or hereditary angioedema. (unboundmedicine.com)
  • Variants (also known as mutations) in the CD40LG gene cause X-linked hyper IgM syndrome. (medlineplus.gov)
  • 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)
  • Male patients with thrombocytopenia and eczema may have Wiskott-Aldrich syndrome with defective T-cell function and resultant recurrent infections. (medscape.com)
  • Multisystemic manifestations of AT include motor impairments secondary to a neurodegenerative process, oculocutaneous telangiectasia, sinopulmonary infections, hypersensitivity to ionizing radiation, and a combined immunodeficiency that can be quite variable. (medscape.com)
  • 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)
  • Children with hyper-IgM syndrome have frequent sinus and lung infections. (msdmanuals.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)
  • Children with hyper-IgM syndrome have frequent infections of the sinuses and lungs. (sym-bio.com)
  • Primary immunodeficiencies are disease that compromise or destroy the immune system, leaving patients susceptible to serious infections. (ca.gov)
  • A gene defect can appear immediately after conception, in such cases, parents do not have immunodeficiency. (stop-seizures-meds.com)
  • Homozygous mutation of this gene results in elevated IgM levels and impairment of B cell class switching. (jax.org)
  • B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. (medlineplus.gov)
  • In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. (wikipedia.org)
  • This results in an overproduction of IgM antibodies and an underproduction of IgA, IgG, and IgE. (wikipedia.org)
  • Below the variable region, or toward the point where the arms meet, is the constant region where every member of an antibody class is identical - so all IgM antibodies have the same constant region, but IgM and IgA constant regions are different. (osmosis.org)
  • For example, IgMs are part of B cell receptors, and are the first free-floating antibodies produced in an immune response . (osmosis.org)
  • With secondary immunodeficiencies in children, the B-link (humoral), E-cell immunity is violated. (stop-seizures-meds.com)
  • Immunodeficiencies affecting cellular and humoral immunity. (springer.com)
  • 9 Center for the Study of Primary Immunodeficiencies and 10 Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital, Paris, France. (jci.org)
  • In some primary immunodeficiencies, such manifestations as autoimmune endocrinopathies, hemolytic anemia, scleroderma-like syndrome, rheumatoid arthritis are common. (stop-seizures-meds.com)
  • Materiales y métodos: Fueron evaluados 64 pacientes pediátricos (1 a 17 años de edad) con diagnóstico de alergia, atendidos en la Unidad Pediátrica Ambulatoria-Especialidad Asma, Alergia e Inmunología del Hospital de Clínicas (periodo 2018-2019). (bvsalud.org)
  • Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation. (bvsalud.org)
  • Prenatal genetic testing may be offered to women who want to become pregnant and have family members with certain genetic mutations that can cause hyper-IgM syndrome. (sym-bio.com)
  • Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts . (lookfordiagnosis.com)
  • METHODS: Observational, descriptive, and cross-secctional study, carried out in pediatric patients attended in the Instituto de Investigaciones en Ciencias de la Salud, and patients from public hospitals with clinical suspicion of LAD were studied. (bvsalud.org)
  • Each antibody has complement protein binding sites on the heavy chains, so these IgM pentamers are also great at activating complement proteins , which help destroy and remove pathogens. (osmosis.org)
  • Igm can fix complement. (lecturio.com)
  • Patients with other immunodeficiency syndromes may benefit from bone marrow transplantation or HSCT, including those with WAS or XHM. (medscape.com)
  • A course of metronidazole may result in dramatic improvement of the diarrhea and, to a certain extent, of malabsorption syndrome in these patients. (medscape.com)
  • The purpose of this research is to understand sleep disturbances in patients with primary immunodeficiency. (mayo.edu)
  • Pneumocystis jirovecii Pneumonia Pneumocystis jirovecii is a common cause of pneumonia in immunosuppressed patients, especially in those infected with human immunodeficiency virus (HIV) and in those receiving systemic. (msdmanuals.com)
  • mission is to improve the treatment, quality of life and the long term outlook for children and adults living with Hyper IgM through research, support, education, and advocacy to families and patients. (globalgenes.org)
  • When I surveyed our global network of Hyper IgM patients about their level of anxiety with the spread of COVID-19, I found the results surprising. (hyperigm.org)
  • Gastroenterologists therefore must be able to diagnose and treat patients with primary immunodeficiency. (medscape.com)
  • This review aims to guide gastroenterologists in the diagnosis and treatment of patients with primary immunodeficiency. (medscape.com)
  • IgM is the form of antibody that all B cells produce initially before they undergo class switching. (wikipedia.org)
  • The B cell receptor consists of two parts - a protein called CD79 that communicates with the rest of the cell and a membrane bound IgM or IgD antibody that can bind to an antigen. (osmosis.org)
  • 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)
  • Autoimmune disease and malignancy are also often seen in a variety of immunodeficiencies. (guidelinecentral.com)
  • 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)
  • Boys become ill with this form of immunodeficiency, and the disease manifests up to 12 months of the child's life. (stop-seizures-meds.com)
  • Family history analysis is important because a family history of immunodeficiency is present if the child has an underlying disease. (stop-seizures-meds.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)
  • These 2 syndromes, AT and NBS, are part of a family of mutations involving proteins involved in DNA repair. (medscape.com)
  • NEMO mutations have been reported in males with immunodeficiency both with and without anhidrotic ectodermal dysplasia (EDA-ID). (medscape.com)