An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
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.
Protein kinases that catalyze the PHOSPHORYLATION of TYROSINE residues in proteins with ATP or other nucleotides as phosphate donors.
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 co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
The class of heavy chains found in IMMUNOGLOBULIN D. They have a molecular weight of approximately 64 kDa and they contain about 500 amino acid residues arranged in four domains and an oligosaccharide component covalently bound to the Fc fragment constant region.
A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G.
An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)
A species of thermophilic CAMPYLOBACTER found in healthy seagulls and causing ENTERITIS in humans.
IMMUNOGLOBULINS on the surface of B-LYMPHOCYTES. Their MESSENGER RNA contains an EXON with a membrane spanning sequence, producing immunoglobulins in the form of type I transmembrane proteins as opposed to secreted immunoglobulins (ANTIBODIES) which do not contain the membrane spanning segment.
A genus of gram-negative, spiral-shaped bacteria that has been isolated from the intestinal tract of mammals, including humans. It has been associated with PEPTIC ULCER.
Immunoglobulin preparations used in intravenous infusion, containing primarily IMMUNOGLOBULIN G. They are used to treat a variety of diseases associated with decreased or abnormal immunoglobulin levels including pediatric AIDS; primary HYPERGAMMAGLOBULINEMIA; SCID; CYTOMEGALOVIRUS infections in transplant recipients, LYMPHOCYTIC LEUKEMIA, CHRONIC; Kawasaki syndrome, infection in neonates, and IDIOPATHIC THROMBOCYTOPENIC PURPURA.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
Genetic mechanisms that allow GENES to be expressed at a similar level irrespective of their GENE DOSAGE. This term is usually used in discussing genes that lie on the SEX CHROMOSOMES. Because the sex chromosomes are only partially homologous, there is a different copy number, i.e., dosage, of these genes in males vs. females. In DROSOPHILA, dosage compensation is accomplished by hypertranscription of genes located on the X CHROMOSOME. In mammals, dosage compensation of X chromosome genes is accomplished by random X CHROMOSOME INACTIVATION of one of the two X chromosomes in the female.
Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
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.
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.
Multi-subunit proteins which function in IMMUNITY. They are produced by B LYMPHOCYTES from the IMMUNOGLOBULIN GENES. They are comprised of two heavy (IMMUNOGLOBULIN HEAVY CHAINS) and two light chains (IMMUNOGLOBULIN LIGHT CHAINS) with additional ancillary polypeptide chains depending on their isoforms. The variety of isoforms include monomeric or polymeric forms, and transmembrane forms (B-CELL ANTIGEN RECEPTORS) or secreted forms (ANTIBODIES). They are divided by the amino acid sequence of their heavy chains into five classes (IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M) and various subclasses.
The number of LYMPHOCYTES per unit volume of BLOOD.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)

Identification of a subpopulation of lymphocytes in human peripheral blood cytotoxic to autologous fibroblasts. (1/604)

A naturally occurring subpopulation of human peripheral blood lymphocytes is cytotoxic to autologous and/or allogeneic fibroblasts. The autocytotoxic lymphocytes have a receptor for the third component of complement and for aggregated gamma globulin, do not form rosettes with sheep red blood cells, and are not removed by passage through nylon. The autocytotoxic subpopulation is not present in the thymus and tonsils of normal children or in the peripheral blood of individuals with X-linked agammaglobulinemia. Fibroblast absorption experiments demonstrate that the autocytotoxic cells are "sensitized" to antigens expressed on allogeneic fibroblasts in addition to the antigens expressed on autologous cells. Some normal individuals have a second subpopulation of lymphocytes that may "regulate" the autocytotoxic cells. The relevance of these observations to the murine autocytotoxic cells is discussed.  (+info)

Induction of human immunoglobulin synthesis and secretion in somatic cell hybrids of mouse myeloma and human B lymphocytes from patients with agammaglobulinemia. (2/604)

Somatic cell hybrid clones were isolated from the fusion of RPC 5,4 mouse myeloma cells and B lymphocytes from three patients with agammaglobulinemia. One patient had X-linked agammaglobulinemia; the remaining two patients had common varied agammaglobulinemia. All three patients had B lymphocytes which fail to secrete immunoglobulin. The hybrid nature of the clones was established by examination of metaphase chromosome spreads. Most of the clones from all three patients expressed surface immunoglobulin of mouse and human parental origin. Clones from two of the patients had fewer cells with surface Ig than hybrids from normal persons, while clones from the third patient had large numbers of surface Ig fluorescent cells. Most of the clones from all three patients synthesized and secreted human and mouse immunoglobulin. As determined by sodium dodecyl sulfate acrylamide gel electrophoresis of radioactively labeled proteins, clones from each of the patients produced human gamma, alpha, and mu-heavy chains. These studies demonstrate the presence of functional structural genes coding for human immunoglobulin heavy chains in B lymphocytes of patients with agammaglobulinemia. Further, they represent induction in the somatic cell hybrids of a gene product not expressed in the parental B lymphocytes.  (+info)

Functions of Bruton's tyrosine kinase in mast and B cells. (3/604)

Bruton's tyrosine kinase (Btk) plays crucial roles in B cell differentiation as well as mast cell activation through the high-affinity IgE receptor (FcepsilonRI). Defects in the btk gene lead to agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice. Mast cells from xid and btk null mice exhibit mild defects in degranulation and severe impairments in the production of proinflammatory cytokines upon FcepsilonRI cross-linking. Recent studies demonstrated the role of Btk in a sustained increase in intracellular calcium concentrations in response to antigen receptor stimulation. Btk is also involved in the activation of stress-activated protein kinases, JNK/SAPK1/2, and thereby regulates c-Jun and other transcription factors that are important in cytokine gene activation. Regulation of the JNK/SAPK activation pathway by Btk may be related to the proapoptotic function of Btk in the programmed cell death in these hematopoietic cells.  (+info)

Comparative genomics and host resistance against infectious diseases. (4/604)

The large size and complexity of the human genome have limited the identification and functional characterization of components of the innate immune system that play a critical role in front-line defense against invading microorganisms. However, advances in genome analysis (including the development of comprehensive sets of informative genetic markers, improved physical mapping methods, and novel techniques for transcript identification) have reduced the obstacles to discovery of novel host resistance genes. Study of the genomic organization and content of widely divergent vertebrate species has shown a remarkable degree of evolutionary conservation and enables meaningful cross-species comparison and analysis of newly discovered genes. Application of comparative genomics to host resistance will rapidly expand our understanding of human immune defense by facilitating the translation of knowledge acquired through the study of model organisms. We review the rationale and resources for comparative genomic analysis and describe three examples of host resistance genes successfully identified by this approach.  (+info)

IgM heavy chain complementarity-determining region 3 diversity is constrained by genetic and somatic mechanisms until two months after birth. (5/604)

Due to the greater range of lengths available to the third complementarity determining region of the heavy chain (HCDR3), the Ab repertoire of normal adults includes larger Ag binding site structures than those seen in first and second trimester fetal tissues. Transition to a steady state range of HCDR3 lengths is not complete until the infant reaches 2 mo of age. Fetal constraints on length begin with a genetic predilection for use of short DH (D7-27 or DQ52) gene segments and against use of long DH (e.g., D3 or DXP) and JH (JH6) gene segments in both fetal liver and fetal bone marrow. Further control of length is achieved through DH-specific limitations in N addition, with D7-27 DJ joins including extensive N addition and D3-containing DJ joins showing a paucity of N addition. DH-specific constraints on N addition are no longer apparent in adult bone marrow. Superimposed upon these genetic mechanisms to control length is a process of somatic selection that appears to ensure expression of a restricted range of HCDR3 lengths in both fetus and adult. B cells that express Abs of an "inappropriate" length appear to be eliminated when they first display IgM on their cell surface. Control of N addition appears aberrant in X-linked agammaglobulinemia, which may exacerbate the block in B cell development seen in this disease. Restriction of the fetal repertoire appears to be an active process, forcing limits on the diversity, and hence range of Ab specificities, available to the young.  (+info)

Early arrest in B cell development in transgenic mice that express the E41K Bruton's tyrosine kinase mutant under the control of the CD19 promoter region. (6/604)

Bruton's tyrosine kinase (Btk) is a nonreceptor protein kinase that is defective in X-linked agammaglobulinemia in humans and in X-linked immunodeficiency in mice. To study the effect of Btk activation in early B cell development in vivo, we have created transgenic mouse strains expressing Btk under the control of the human CD19 promoter region. The transgenic expression of wild-type human Btk corrected all X-linked immunodeficiency features in mice carrying a targeted disruption of the Btk gene. In contrast, expression of an activated form of Btk, the E41K mutant, resulted in an almost complete arrest of B cell development in the immature IgM+IgD- B cell stage in the bone marrow, irrespective of the presence of the endogenous intact Btk gene. Immature B cells were arrested at the progression from IgMlow into IgMhigh cells, which reflects the first immune tolerance checkpoint at which autoreactive B cells become susceptible to apoptosis. As the constitutive activation of Btk is likely to mimic B cell receptor occupancy by autoantigens in the bone marrow, our findings are consistent with a role for Btk as a mediator of B cell receptor-induced apoptotic signals in the immature B cell stage. Whereas the peripheral mature B cell pool was reduced to <1% of the normal size, significant numbers of IgM-secreting plasma cells were present in the spleen. Serum IgM levels were substantial and increased with age, but specific Ab responses in vivo were lacking. We conclude that the residual peripheral B cells were efficiently driven into IgM+ plasma cell differentiation, apparently without functional selection.  (+info)

In vivo modulation of cytokine synthesis by intravenous immunoglobulin. (7/604)

We examined the effects of intravenous immunoglobulin (IVIG) on cytokine regulation in vivo using samples taken before and after replacement-dose (200-400 mg/kg) IVIG in a group of patients with common variable immunodeficiency (CVID) and X-linked agammaglobulinaemia (XLA). The intracellular cytokine content of CD4+ and CD8+ lymphocytes, and their CD28+/- subsets, were measured following in vitro activation with phorbol myristate acetate (PMA) and ionomycin. The cytokines IL-2, interferon-gamma (IFN-gamma) and tumour necrosis factor-alpha (TNF-alpha), and the early activation marker CD69, were assessed by four-colour flow cytometry of whole blood cultures taken before and after IVIG infusion. There was a significant increase in IL-2 expression in CD4+ (and CD4+28-) cells and an increase in TNF-alpha expression in CD8+28- cells following IVIG in CVID, but not in XLA patients. IFN-gamma and CD69 expression were not affected by IVIG infusion. This increase in TNF-alpha and IL-2, combined with unchanged IFN-gamma expression, is evidence against the putative 'anti-inflammatory' role of IVIG, and may explain the failure of resolution of granulomata in CVID patients treated with IVIG alone.  (+info)

CD95 expression and function on lymphocyte subpopulations in common variable immunodeficiency (CVID); related to increased apoptosis. (8/604)

Apoptosis is now recognized as a central process of development and disease, and it has been proposed as one of the mechanisms that may account for the lymphopenia seen in some diseases. In this study we measured spontaneous apoptosis and CD95 expression on different cell subpopulations from CVID patients, using flow cytometric techniques. We divided our patients into two groups according to their CD4+ and CD4+CD45RA+ cell counts. Our results clearly show increased spontaneous apoptosis and CD95 expression on the CD4+ and CD4+CD45RA+ subsets from lymphopenic CVID patients compared with normal subjects and disease controls. Interestingly, our lymphopenic CVID patients presented a profound reduction in absolute counts, mainly affecting the CD4+CD45RA+ subpopulation. We also found a statistically significant direct correlation between absolute numbers of CD4+CD45RA+ T cells and spontaneous apoptosis on the same subset in CVID patients, but attempts to induce CD95-mediated apoptosis were unsuccessful despite increased CD95 expression on CD4+ T cells. These findings suggest that apoptosis could be one of the mechanisms implicated in the significant lymphopenia present in these patients.  (+info)

Agammaglobulinemia is a medical condition characterized by a severe deficiency or complete absence of gamma globulins (a type of antibodies) in the blood. This deficiency results from a lack of functional B cells, which are a type of white blood cell that produces antibodies to help fight off infections.

There are two main types of agammaglobulinemia: X-linked agammaglobulinemia (XLA) and autosomal recessive agammaglobulinemia (ARA). XLA is caused by mutations in the BTK gene and primarily affects males, while ARA is caused by mutations in other genes and can affect both males and females.

People with agammaglobulinemia are at increased risk for recurrent bacterial infections, particularly respiratory tract infections such as pneumonia and sinusitis. They may also be more susceptible to certain viral and parasitic infections. Treatment typically involves replacement therapy with intravenous immunoglobulin (IVIG) to provide the patient with functional antibodies.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

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.

Protein-Tyrosine Kinases (PTKs) are a type of enzyme that plays a crucial role in various cellular functions, including signal transduction, cell growth, differentiation, and metabolism. They catalyze the transfer of a phosphate group from ATP to the tyrosine residues of proteins, thereby modifying their activity, localization, or interaction with other molecules.

PTKs can be divided into two main categories: receptor tyrosine kinases (RTKs) and non-receptor tyrosine kinases (NRTKs). RTKs are transmembrane proteins that become activated upon binding to specific ligands, such as growth factors or hormones. NRTKs, on the other hand, are intracellular enzymes that can be activated by various signals, including receptor-mediated signaling and intracellular messengers.

Dysregulation of PTK activity has been implicated in several diseases, such as cancer, diabetes, and inflammatory disorders. Therefore, PTKs are important targets for drug development and therapy.

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.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

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 delta-chains (IgD) are a type of heavy chain found in immunoglobulins, which are also known as antibodies. Antibodies are proteins that play a crucial role in the immune system's response to foreign substances, such as bacteria and viruses.

The heavy chains of an antibody consist of four polypeptide regions: the variable region, which varies between different antibodies and is responsible for recognizing and binding to specific antigens; and three constant regions, known as Cμ, Cγ, Cα, or Cδ, which determine the class of the antibody and its effector functions.

IgD heavy chains contain a single Cδ region and are found only in a small subset of antibodies, primarily located on the surface of mature B cells. IgD is co-expressed with IgM on the surface of naive B cells and plays a role in activating the immune response by binding to antigens and initiating signal transduction pathways that lead to B cell activation and differentiation into antibody-secreting plasma cells.

While the function of IgD is not fully understood, it is thought to play a role in regulating the immune response, including modulating allergic reactions and protecting against autoimmunity. Additionally, IgD has been found to have a role in the development and survival of B cells, as well as in the regulation of calcium signaling in B cells.

IgG deficiency is a type of immunodeficiency disorder characterized by reduced levels of immunoglobulin G (IgG) antibodies in the blood. IgG is the most common type of antibody in our body and plays a crucial role in fighting against infections.

There are four subclasses of IgG (IgG1, IgG2, IgG3, and IgG4), and a deficiency in one or more of these subclasses can lead to recurrent infections, particularly of the respiratory tract, such as sinusitis, bronchitis, and pneumonia. People with IgG deficiency may also be more susceptible to autoimmune diseases and allergies.

IgG deficiency can be inherited or acquired, and it is usually diagnosed through blood tests that measure the levels of IgG and other immunoglobulins in the blood. Treatment typically involves preventing infections through vaccinations, antibiotics to treat infections, and in some cases, replacement therapy with intravenous immunoglobulin (IVIG) to boost the immune system.

Ecthyma is a deep skin infection that penetrates below the superficial skin layer (dermis) and is characterized by the formation of ulcers or crusty lesions. It is typically caused by group A Streptococcus or Staphylococcus aureus bacteria and can occur in individuals with compromised immune systems, poor hygiene, or exposure to unhygienic conditions.

The infection usually begins as a papule or pustule, which then develops into a shallow ulcer with a necrotic base and raised edges. The lesion may be painful, pruritic (itchy), and can take several weeks to heal, often leaving scars. In severe cases, ecthyma can lead to complications such as lymphangitis, cellulitis, or bacteremia.

Treatment typically involves the use of systemic antibiotics, topical antiseptics, and wound care to promote healing and prevent scarring. Preventive measures include maintaining good hygiene, prompt treatment of skin injuries, and addressing underlying conditions that may increase the risk of infection.

Campylobacter lari is a species of bacteria that can cause gastrointestinal illness in humans. It is one of several species within the genus Campylobacter, which are known to be significant causes of foodborne illness worldwide. C. lari is commonly found in the intestines of birds and other animals, and human infection typically occurs through the consumption of contaminated food or water.

The symptoms of a C. lari infection can include diarrhea, abdominal cramps, fever, and vomiting. The illness is usually self-limiting and resolves within a few days to a week, although in some cases it may lead to more severe complications such as bacteremia (bacteria in the bloodstream) or Guillain-Barré syndrome, a serious neurological condition.

Prevention measures include proper food handling and cooking techniques, as well as good hygiene practices such as handwashing after using the bathroom and before preparing or eating food. If you suspect that you have a C. lari infection, it is important to seek medical attention promptly to receive appropriate treatment and prevent complications.

1. Receptors: In the context of physiology and medicine, receptors are specialized proteins found on the surface of cells or inside cells that detect and respond to specific molecules, known as ligands. These interactions can trigger a variety of responses within the cell, such as starting a signaling cascade or changing the cell's metabolism. Receptors play crucial roles in various biological processes, including communication between cells, regulation of immune responses, and perception of senses.

2. Antigen: An antigen is any substance (usually a protein) that can be recognized by the adaptive immune system, specifically by B-cells and T-cells. Antigens can be derived from various sources, such as microorganisms (like bacteria, viruses, or fungi), pollen, dust mites, or even components of our own cells (for instance, in autoimmune diseases). An antigen's ability to stimulate an immune response is determined by its molecular structure and whether it can be recognized by the receptors on immune cells.

3. B-Cell: B-cells are a type of white blood cell that plays a critical role in the adaptive immune system, particularly in humoral immunity. They originate from hematopoietic stem cells in the bone marrow and are responsible for producing antibodies, which are proteins that recognize and bind to specific antigens. Each B-cell has receptors on its surface called B-cell receptors (BCRs) that can recognize a unique antigen. When a B-cell encounters its specific antigen, it becomes activated, undergoes proliferation, and differentiates into plasma cells that secrete large amounts of antibodies to neutralize or eliminate the antigen.

"Helicobacter" is a genus of gram-negative, spiral-shaped bacteria that are commonly found in the stomach. The most well-known species is "Helicobacter pylori," which is known to cause various gastrointestinal diseases, such as gastritis, peptic ulcers, and gastric cancer. These bacteria are able to survive in the harsh acidic environment of the stomach by producing urease, an enzyme that neutralizes stomach acid. Infection with "Helicobacter pylori" is usually acquired in childhood and can persist for life if not treated.

Intravenous Immunoglobulins (IVIG) are a preparation of antibodies, specifically immunoglobulins, that are derived from the plasma of healthy donors. They are administered intravenously to provide passive immunity and help boost the immune system's response in individuals with weakened or compromised immune systems. IVIG can be used for various medical conditions such as primary immunodeficiency disorders, secondary immunodeficiencies, autoimmune diseases, and some infectious diseases. The administration of IVIG can help prevent infections, reduce the severity and frequency of infections, and manage the symptoms of certain autoimmune disorders. It is important to note that while IVIG provides temporary immunity, it does not replace a person's own immune system.

A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.

The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.

Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.

Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).

Genetic dosage compensation is a process that evens out the effects of genes on an organism's phenotype (observable traits), even when there are differences in the number of copies of those genes present. This is especially important in cases where sex chromosomes are involved, as males and females often have different numbers of sex chromosomes.

In many species, including humans, females have two X chromosomes, while males have one X and one Y chromosome. To compensate for the difference in dosage, one of the female's X chromosomes is randomly inactivated during early embryonic development, resulting in each cell having only one active X chromosome, regardless of sex. This process ensures that both males and females have similar levels of gene expression from their X chromosomes and helps to prevent an imbalance in gene dosage between the sexes.

Defects in dosage compensation can lead to various genetic disorders, such as Turner syndrome (where a female has only one X chromosome) or Klinefelter syndrome (where a male has two or more X chromosomes). These conditions can result in developmental abnormalities and health issues due to the imbalance in gene dosage.

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.

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

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.

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.

Immunoglobulins (Igs), also known as antibodies, are glycoprotein molecules produced by the immune system's B cells in response to the presence of foreign substances, such as bacteria, viruses, and toxins. These Y-shaped proteins play a crucial role in identifying and neutralizing pathogens and other antigens, thereby protecting the body against infection and disease.

Immunoglobulins are composed of four polypeptide chains: two identical heavy chains and two identical light chains, held together by disulfide bonds. The variable regions of these chains form the antigen-binding sites, which recognize and bind to specific epitopes on antigens. Based on their heavy chain type, immunoglobulins are classified into five main isotypes or classes: IgA, IgD, IgE, IgG, and IgM. Each class has distinct functions in the immune response, such as providing protection in different body fluids and tissues, mediating hypersensitivity reactions, and aiding in the development of immunological memory.

In medical settings, immunoglobulins can be administered therapeutically to provide passive immunity against certain diseases or to treat immune deficiencies, autoimmune disorders, and other conditions that may benefit from immunomodulation.

A lymphocyte count is a laboratory test that measures the number of white blood cells called lymphocytes in a sample of blood. Lymphocytes are a vital part of the immune system and help fight off infections and diseases. A normal lymphocyte count ranges from 1,000 to 4,800 cells per microliter (µL) of blood for adults.

An abnormal lymphocyte count can indicate an infection, immune disorder, or blood cancer. A low lymphocyte count is called lymphopenia, while a high lymphocyte count is called lymphocytosis. The cause of an abnormal lymphocyte count should be investigated through further testing and clinical evaluation.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

In addition, to X-linked agammaglobulinemia a couple of autosomal recessive agammaglobulinemia gene mutations have been ... "OMIM Entry - # 601495 - AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1". "OMIM Entry - # 613500 - AGAMMAGLOBULINEMIA 2, ... As the form of agammaglobulinemia that is X-linked, it is much more common in males. In people with XLA, the white blood cell ... X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight ...
"E%610483 - AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS". www.omim.org. Retrieved 2023-10-04. (Articles with short ... Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of ... "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (Concept Id: C1864848)". www.ncbi.nlm.nih.gov. ... Features of this condition include: Agammaglobulinemia associated with severe developmental delay Microcephaly Craniosynostosis ...
X-linked agammaglobulinemia was one of the first described primary immunodeficiencies, discovered by Ogden Bruton in 1952. ... Bruton OC (June 1952). "Agammaglobulinemia". Pediatrics. 9 (6): 722-728. doi:10.1542/peds.9.6.722. PMID 14929630. S2CID ... X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, DiGeorge syndrome, ataxia-telangiectasia, The treatment of primary ...
This type of agammaglobulinemia is now called Bruton's syndrome or X-linked agammaglobulinemia, which was later found by others ... Terry Chin, Emedicine article on Bruton Agammaglobulinemia Bruton OC (1952). "Agammaglobulinemia". Pediatrics. 9 (6): 722-8. ... A decade with agammaglobulinemia. J Pediatr. 1962 May;60:672-6 Andrews BF, Bruton OC, De Baare L. Serum amino acid nitrogen in ... Agammaglobulinemia. Pediatrics 1952 Jun:9(6):722-8 Moseley RW, Bruton OC. Hemophilia in children: with a suggestion for ...
BLNK Agammaglobulinemia 5; 613506; LRRC8A Agammaglobulinemia and isolated hormone deficiency; 307200; BTK Agammaglobulinemia, ... FGB Agammaglobulinemia 1; 601495; IGHM Agammaglobulinemia 2; 613500; IGLL1 Agammaglobulinemia 4; 613502; ...
X-linked agammaglobulinemia (XLA; also known as Bruton type agammaglobulinemia): characterized by a deficiency in tyrosine ...
It is associated with agammaglobulinemia-6. The B lymphocyte antigen receptor is a multimeric complex that includes the antigen ...
"agammaglobulinemia" at Dorland's Medical Dictionary "Dysgammaglobulinemia" at Dorland's Medical Dictionary Rose, Mark E.; Lang ... The following lists types of "agammaglobulinemia" catalogued in the OMIM. Hypogammaglobulinemia can have other types; see ... "Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "X-linked ... Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias, but the distinction ...
It is associated with agammaglobulinemia-3. The mouse CD79A gene, then called mb-1, was cloned in the late 1980s, followed by ... gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia". American Journal of Medical Genetics. 108 (4): ... in CD79A predicted to result in loss of the transmembrane region and a truncated or absent protein display agammaglobulinemia ...
Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or ... 1998). "Mutations in the Human λ5/14.1 Gene Result in B Cell Deficiency and Agammaglobulinemia". J. Exp. Med. 187 (1): 71-7. ... 2000). "Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage ... IGLL1 has also recently been designated CD179B (cluster of differentiation 179B). It is associated with agammaglobulinemia-2. ...
McKusick, V. A.; Cross, H. E. (1966-02-28). "Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of ... "Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia ...
It is associated with agammaglobulinemia-1. GRCh38: Ensembl release 89: ENSG00000211899 - Ensembl, May 2017 "Human PubMed ...
A mutation of the mu chain within IgM causes autosomal recessive agammaglobulinemia. The presence of IgM or, rarely, IgG is one ... "OMIM Entry - # 601495 - AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1". omim.org. Retrieved 2021-03-25. Gusdorf, L.; Lipsker ...
"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (Concept Id: C1864848)". www.ncbi.nlm.nih.gov. ...
It is found in patients with X-linked agammaglobulinemia. IgA deficiency occurs in 1:500 of the population, as is suggested by ...
... in those with agammaglobulinemia, intravenous immunoglobulin may be started. Prophylactic antibiotics are considered to prevent ...
He also worked on X-linked agammaglobulinaemia.[citation needed] He published over 300 papers on his research. Rosen was the ...
Mutations in the Btk gene are responsible for X-linked agammaglobulinemia, a disease characterized by the lack of mature B- ... "Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease". Proc. Natl. Acad. Sci. U.S.A. 91 (26 ... "Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia". Cell. 72 (2): 279-90. doi: ...
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. GRCh38: Ensembl ... Sawada, A; Takihara, Y; Kim, JY (December 2003). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in ... 2004). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". J. Clin. Invest. 112 (11): 1707-13 ...
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. "Entrez Gene: LRRC8A ... Sawada, A; Takihara, Y; Kim, JY (December 2003). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in ... 2004). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". J. Clin. Invest. 112 (11): 1707-13 ...
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. Specifically for ... "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". The Journal of Clinical Investigation. 112 ...
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. GRCh38: Ensembl ... "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". The Journal of Clinical Investigation. 112 ...
X-linked agammaglobulinemia (XLA), which affects the body's ability to fight infection. XLA patients do not generate mature B ... ISBN 1-84184-120-X. "X-linked Agammaglobulinemia: Immunodeficiency Disorders: Merck Manual Professional". Archived from the ...
X-Linked Agammaglobulinemia Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the ... GeneReviews/NCBI/NIH/UW entry on X-Linked or Brunton's Agammaglobulinemia Bruton's+tyrosine+kinase at the U.S. National Library ... Bruton's agammaglobulinemia); sometimes abbreviated to XLA and selective IgM deficiency. Patients with XLA have normal pre-B ... Mutations in the BTK gene are implicated in the primary immunodeficiency disease X-linked agammaglobulinemia ( ...
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia-5. GRCh38: Ensembl ... "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans". The Journal of Clinical Investigation. 112 ...
Shaker M, Lorigiano TH, Vadlamudi A (June 2016). "Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and ...
January 29, 1993). "Deficient expression of a B-cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia". Cell. ... causes the onset of X-linked agammaglobulinemia. This finding influenced the development of targeted drugs like Ibrutinib to ...
1993). "The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases". Nature. ... This gene is thought to be involved in Fabry disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in ... 1993). "Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia". Cell. 72 (2): 279- ...
"G Protein beta gamma subunits act on the catalytic domain to stimulate Bruton's agammaglobulinemia tyrosine kinase". J. Biol. ...
He was the first to report on a case of an immune system disorder known as agammaglobulinemia. The Apt test is performed when a ...
In addition, to X-linked agammaglobulinemia a couple of autosomal recessive agammaglobulinemia gene mutations have been ... "OMIM Entry - # 601495 - AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1". "OMIM Entry - # 613500 - AGAMMAGLOBULINEMIA 2, ... As the form of agammaglobulinemia that is X-linked, it is much more common in males. In people with XLA, the white blood cell ... X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the bodys ability to fight ...
Agammaglobulinemia is an inherited disorder in which a person has very low levels of protective immune system proteins called ... Agammaglobulinemia is an inherited disorder in which a person has very low levels of protective immune system proteins called ... Brutons agammaglobulinemia; X-linked agammaglobulinemia; Immunosuppression - agammaglobulinemia; Immunodepressed - ... Agammaglobulinemia is an inherited disorder in which a person has very low levels of protective immune system proteins called ...
Clinical characteristics: X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected ...
Agammaglobulinemia, or hypogammaglobulinemia, is the most common of the primary immunodeficiencies, accounting for ... encoded search term (Agammaglobulinemia) and Agammaglobulinemia What to Read Next on Medscape ... Bruton agammaglobulinemia or XLA). XLA is further discussed in detail in the article Bruton Agammaglobulinemia. Late-onset ... Agammaglobulinemia. Updated: Jul 08, 2019 * Author: Donald A Person, MD, FAAP, FACR; Chief Editor: Harumi Jyonouchi, MD more... ...
Agammaglobulinemia, or hypogammaglobulinemia, is the most common of the primary immunodeficiencies, accounting for ... encoded search term (Agammaglobulinemia) and Agammaglobulinemia What to Read Next on Medscape ... Bruton agammaglobulinemia or XLA). XLA is further discussed in detail in the article Bruton Agammaglobulinemia. Late-onset ... Agammaglobulinemia. Updated: Jul 08, 2019 * Author: Donald A Person, MD, FAAP, FACR; Chief Editor: Harumi Jyonouchi, MD more... ...
We report an adolescent male with X-linked agammaglobulinemia (XLA) and recurrent episodes of pyogenic meningitis. The workup ... We report an adolescent male with X-linked agammaglobulinemia (XLA) and recurrent episodes of pyogenic meningitis. The workup ... Recurrent pyogenic meningitis in a 17-year-old: a delayed presentation of X-linked agammaglobulinemia with growth hormone ...
Learn and reinforce your understanding of X-linked agammaglobulinemia. ... X-linked agammaglobulinemia Videos, Flashcards, High Yield Notes, & Practice Questions. ... X-linked agammaglobulinemia (XLA) is an x-linked genetic disorder of the immune system caused by mutations in the BTK (Brutons ... X-Linked Agammaglobulinemia Patients Are Not Infected with Epstein-Barr Virus: Implications for the Biology of the Virus ...
Adolescent Agammaglobulinemia Astroviridae Infections Capsid Proteins Encephalitis, Viral Fatal Outcome Frontal Lobe Genetic ... Title : Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia Personal Author(s) : Quan, Phenix-Lan;Wagner, Thor A.; ... "Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia" 16, no. 6 (2010). Quan, Phenix-Lan et al. "Astrovirus ... 2010). Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia. 16(6). Quan, Phenix-Lan et al. " ...
Agammaglobulinemia 6, Autosomal recessive; AGM6 disease page. Quantitative data and detailed annnotation of the targets of ... Agammaglobulinemia 6, Autosomal recessive; AGM6. GtoPdb Disease Summaries. This section gives an overview of the disease, and ...
Agammaglobulinemia, or hypogammaglobulinemia, is the most common of the primary immunodeficiencies, accounting for ... encoded search term (Agammaglobulinemia) and Agammaglobulinemia What to Read Next on Medscape ... Agammaglobulinemia and absent B lineage cells in a patient lacking the p85a subunit of PI3K. J Exp Med. 2012 Mar 12. 209(3):463 ... Agammaglobulinemia Differential Diagnoses. Updated: May 06, 2014 * Author: Terry W Chin, MD, PhD; Chief Editor: Harumi ...
We report a 14-year-old boy with X-linked agammaglobulinemia (XLA) complicated by isolated non-progressive myelitis caused by ... Non-progressive viral myelitis in X-linked agammaglobulinemia.. Kenji Katamura, Haruo Hattori, Tomoko Kunishima, Hirokazu ...
Agammaglobulinemia, or hypogammaglobulinemia, is the most common of the primary immunodeficiencies, accounting for ... encoded search term (Agammaglobulinemia) and Agammaglobulinemia What to Read Next on Medscape ... Bruton agammaglobulinemia or XLA). XLA is further discussed in detail in the article Bruton Agammaglobulinemia. Late-onset ... Agammaglobulinemia and absent B lineage cells in a patient lacking the p85a subunit of PI3K. J Exp Med. 2012 Mar 12. 209(3):463 ...
What It Was Like to Lose My Insurance While Facing X-Linked Agammaglobulinemia. ...
a rare immunological disorder characterized by the virtual absence of gamma globulin in the blood and consequent susceptibility to infection ...
Agammaglobulinemia, usually abbreviated as AGMX, is a disease with a genetic origin. It can only ... Agammaglobulinemia, usually abbreviated as AGMX, is a disease with a genetic origin. It can only ... Agammaglobulinemia means the absence of gamma globulin in the blood. Gamma globulin is an antibody. Antibodies make up the ... You can also call agammaglobulinemia, X-linked agammaglobulinemia, Brutons agammaglobulinemia, or congenital ...
Defects in the Bruton tyrosine kinase (BTK) gene cause agammaglobulinemia. Agammaglobulinemia is characterized by failure to ... Mutations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia. ...
X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, results from a mutation of the BTK gene, which ... X-linked agammaglobulinemia. In patients with XLA, attenuated live poliovirus vaccine may cause vaccine-associated ... Autoimmunity and inflammation in X-linked agammaglobulinemia. J Clin Immunol. 2014 Aug. 34(6):627-32. [QxMD MEDLINE Link]. [ ... Nodular regenerative hyperplasia in X-linked agammaglobulinemia: An underestimated and severe complication. J Allergy Clin ...
X-linked agammaglobulinaemia. X-linked agammaglobulinaemia Previous months PID:. *. Common Variable Immunodeficiency (CVID). ...
... agammaglobulinemia gonosomala : Boli si tratamente MediculTau - ghid medical ...
X-Linked Agammaglobulinemia - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer ... X-linked agammaglobulinemia results from a mutation in a gene on the X (sex) chromosome (called an X-linked disorder) X-Linked ... X-Linked Agammaglobulinemia (Bruton Disease). By James Fernandez , MD, PhD, Cleveland Clinic Lerner College of Medicine at Case ... X-linked agammaglobulinemia increases the risk of developing infections in the joints (infectious arthritis Infectious ...
High-throughput sequencing reveals an altered T cell repertoire in X-linked agammaglobulinemia. ... High-throughput sequencing reveals an altered T cell repertoire in X-linked agammaglobulinemia. Together they form a unique ...
Causative XLH is incurable.… X-Linked Agammaglobulinemia Type 1 (Brutons Agammaglobulinemia): Read more about Symptoms, ... Bruton agammaglobulinemia ( X-linked agammaglobulinemia ) Definition : x-linked recessive disease that causes a complete ... Bruton agammaglobulinemia ( X-linked agammaglobulinemia ) Definition : x-linked recessive disease that causes a complete ... Brutons Agammaglobulinemia X-linked hypogammaglobulinemia (XLH) is a congenital immunodeficiency disorder, which is caused by ...
This patient had a diagnosis of agammaglobulinemia.. Egypt (10 cases). During July-December 2018, the PID surveillance project ... Abbreviations: AFP = acute flaccid paralysis; AGG = agammaglobulinemia; CID = combined immunodeficiency disorder; MHC = major ... Abbreviations: AGG = agammaglobulinemia; HGG = hypogammaglobulinemia; ICF = centromeric region instability, facial anomalies ... syndrome; MHC = major histocompatibility complex; SCID = severe combined immunodeficiency; XLA = X-linked agammaglobulinemia. ...
agammaglobulinemia (medicine). gamma globulin: …supply of it-conditions called, respectively, agammaglobulinemia and ...
The total protein test measures the total amount of two classes of proteins found in the fluid portion of your blood. These are albumin and globulin.
SYN: Swiss type agammaglobulinemia. i. with elevated IgM i. with reduced IgG- and IgA-bearing cells; there is recurrent ... SYN: acquired agammaglobulinemia, acquired hypogammaglobulinemia. phagocytic dysfunction i. suppression in number or function ... SYN: secondary agammaglobulinemia, secondary antibody deficiency, secondary hypogammaglobulinemia. severe combined i. (SCID) [ ...
Agammaglobulinemia. (very low levels of immunoglobulins, a very rare disorder). *. Leukemia. (blood cancer) ...
X-linked agammaglobulinemia. *Selective IgA deficiency. *Wiskott-Aldrich syndrome. *Chronic granulomatous disease ...
  • After more than 50 years since the clinical entity was first described by Bruton in 1952, the molecular defect in X-linked agammaglobulinemia (XLA) has been elucidated. (medscape.com)
  • An estimated 90% of patients with early-onset agammaglobulinemia and absence of B cells have abnormalities in the Btk gene (ie, Bruton agammaglobulinemia or XLA). (medscape.com)
  • XLA is further discussed in detail in the article Bruton Agammaglobulinemia . (medscape.com)
  • The remaining type is early onset non-Bruton agammaglobulinemia, with low or absent serum immunoglobulin (Ig). (medscape.com)
  • Defects in the Bruton tyrosine kinase (BTK) gene cause agammaglobulinemia . (lu.se)
  • X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, results from a mutation of the BTK gene, which encodes the pre-B-cell receptor (Pre-BCR) and BCR. (medscape.com)
  • X-linked agammaglobulinemia (XLA) is an x-linked genetic disorder of the immune system caused by mutations in the BTK (Bruton's tyrosine kinase) gene. (osmosis.org)
  • Mutations in Brutons tyrosine kinase (Btk) within its PH domain cause X-linked agammaglobulinaemia (XLA) in patients. (embl.de)
  • Colonel Bruton's kinase defined the molecular basis of X-linked agammaglobulinemia, the first primary immunodeficiency. (medscape.com)
  • Pyoderma Gangrenosum in a Patient with Bruton's X-linked Agammaglobulinemia: Shared Pathogenesis of Altered Tumor Necrosis Factor Alpha? (jcadonline.com)
  • You have a family history of agammaglobulinemia or another immunodeficiency disorder and you are planning to have children. (medlineplus.gov)
  • X-linked agammaglobulinemia is a hereditary immunodeficiency disorder due to a mutation in a gene on the X (sex) chromosome. (msdmanuals.com)
  • X-linked agammaglobulinemia is a genetic immunodeficiency disorder. (naturalpedia.com)
  • Agammaglobulinemia, or hypogammaglobulinemia, is the most common of the primary immunodeficiencies, accounting for approximately 50% of cases. (medscape.com)
  • Genetic loss of BTK, as occurs in X-linked agammaglobulinemia, results in the absence of B cells and hypogammaglobulinemia. (haematologica.org)
  • Genetic testing may be done to confirm the diagnosis of X-linked agammaglobulinemia but is not usually needed. (msdmanuals.com)
  • 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)
  • IDF 2017 National Conference session, "X-Linked Agammaglobulinemia (XLA)" was presented by Dr. Howard Lederman, MD, PhD and Dr. M. Elizabeth Younger, CRNP, PhD on June 16, 2017. (primaryimmune.org)
  • Kids without Agammaglobulinemia can also present these symptoms. (mbbch.com)
  • X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. (wikipedia.org)
  • The American Society of Hematology defines it as an isolated thrombocytopenia with clinically no apparent associated conditions or no other cause of thrombocytopenia, such as HIV infection, systemic lupus erythematosus, lymphoproliferative disorders, myelodysplasia, agammaglobulinaemia or hypogammaglobulinaemia, drug-induced thrombocytopenia, alloimmune thrombocytopenia or congenital/hereditary non-immune thrombocytopenia [7]. (who.int)
  • Agammaglobulinemia and absent B lineage cells in a patient lacking the p85a subunit of PI3K. (medscape.com)
  • Most cases are agammaglobulinemia with autosomal recessive/dominant heritage and represent a very heterogeneous group, including immunoglobulin (Ig) deficiency with increased immunoglobulin M (hyper-IgM syndrome), which is also discussed separately (see X-linked Immunodeficiency With Hyper IgM ). (medscape.com)
  • With X-linked agammaglobulinemia , or XLA for short, gamma globulin is another name for immunoglobulin, which is another name for antibodies, a- means without, and -emia refers to the blood. (osmosis.org)
  • Vancikova Z, Freiberger T, Vach W, Trojanek M, Rizzi M, Janda A. X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission. (medscape.com)
  • X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. (nih.gov)
  • We report an adolescent male with X-linked agammaglobulinemia (XLA) and recurrent episodes of pyogenic meningitis. (nih.gov)
  • Agammaglobulinemia, usually abbreviated as AGMX, is a disease with a genetic origin. (mbbch.com)
  • Agammaglobulinemia is an inherited disorder in which a person has very low levels of protective immune system proteins called immunoglobulins. (medlineplus.gov)
  • Agammaglobulinemia only needs a single bad copy of a gene to express itself. (mbbch.com)
  • Mutations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia. (lu.se)
  • To do this we need help from people with CVID, as well as people with another immune deficiency called X-linked agammaglobulinemia (XLA). (edu.au)
  • Two patients presented agammaglobulinemia, three presented hiper IgM syndrome and one IgA deficit. (bvsalud.org)
  • Genetic counseling should be offered to prospective parents with a family history of agammaglobulinemia or other immunodeficiency disorders . (medlineplus.gov)
  • This syndrome combines agammaglobulinaemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. (cdc.gov)
  • It has been suggested that this syndrome represents a new form of agammaglobulinaemia due to a defect in early B-cell maturation. (cdc.gov)
  • Campylobacter jejuni bacteremia and Helicobacter pylori in a patient with X-linked agammaglobulinemia. (medscape.com)
  • This case illustrates that the combined use of cell cultures and NGS can be a powerful tool for identify- Agammaglobulinemia, France ing unknown pathogens in clinical specimens when results from routine tests are negative and the patient's condition Nicolas Etienne, Laurent Bret, is undiagnosed. (cdc.gov)
  • As the form of agammaglobulinemia that is X-linked, it is much more common in males. (wikipedia.org)
  • Agammaglobulinemia is inherited, which means other people in your family may have the condition. (medlineplus.gov)
  • Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells and is associated with a failure of Ig heavy chain rearrangement . (lu.se)
  • Agammaglobulinemia means an absence of gamma globulin in the blood. (mbbch.com)
  • Le présent article fait le point sur la recherche dans ce domaine, en comparant les pays à revenu faible et élevé. (who.int)
  • York NR, de la Morena MT. 50 years ago in the journal of pediatrics: a decade with agammaglobulinemia. (medscape.com)