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Selective Immunoglobulin A Deficiency
Selective immunoglobulin A (IgA) deficiency (SIgAD) is a kind of immunodeficiency, a type of hypogammaglobulinemia. People with this deficiency lack immunoglobulin A (IgA), a type of antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. It is defined as an undetectable serum IgA level in the presence of normal serum levels of IgG and IgM, in persons older than 4 years. It is the most common of the primary antibody deficiencies. Most such persons remain healthy throughout their lives and are never diagnosed. Signs and symptoms 85–90% of IgA-deficient individuals are asymptomatic, although the reason for lack of symptoms is relatively unknown and continues to be a topic of interest and controversy.Yel, L. (2010) 'Selective IgA Deficiency', Journal of Clinical Immunology, 30(1), pp. 10-16. Some patients with IgA deficiency have a tendency to develop recurrent sinopulmonary infections, gastrointestinal infections and diso ...
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Clinical And Experimental Immunology
''Clinical & Experimental Immunology'' is a peer-reviewed medical journal covering clinical and translational immunology. The editor-in-chief is Professor Claudia Mauri (University College London). It is published by Oxford University Press on behalf of the British Society for Immunology, of which it is the official journal. According to the ''Journal Citation Reports'', the journal has a 2021 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a type of journal ranking. Journals with higher impact factor values are considered more prestigious or important within their field. The Impact Factor of a journa ... of 5.732, ranking it 58th out of 161 journals in the category "Immunology". See also * ''Immunology'' References External links * Immunology journals Academic journals established in 1966 Wiley-Blackwell academic journals Monthly journals English-language journals Academic journals associated with learned and p ...
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Chromosome
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most important of these proteins are the histones. Aided by chaperone proteins, the histones bind to and condense the DNA molecule to maintain its integrity. These eukaryotic chromosomes display a complex three-dimensional structure that has a significant role in transcriptional regulation. Normally, chromosomes are visible under a light microscope only during the metaphase of cell division, where all chromosomes are aligned in the center of the cell in their condensed form. Before this stage occurs, each chromosome is duplicated ( S phase), and the two copies are joined by a centromere—resulting in either an X-shaped structure if the centromere is located equatorially, or a two-armed structure if the centromere is located distally; the jo ...
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Diabetes
Diabetes mellitus, commonly known as diabetes, is a group of common endocrine diseases characterized by sustained high blood sugar levels. Diabetes is due to either the pancreas not producing enough of the hormone insulin, or the cells of the body becoming unresponsive to insulin's effects. Classic symptoms include polydipsia (excessive thirst), polyuria (excessive urination), polyphagia (excessive hunger), weight loss, and blurred vision. If left untreated, the disease can lead to various health complications, including disorders of the cardiovascular system, eye, kidney, and nerves. Diabetes accounts for approximately 4.2 million deaths every year, with an estimated 1.5 million caused by either untreated or poorly treated diabetes. The major types of diabetes are type 1 and type 2. The most common treatment for type 1 is insulin replacement therapy (insulin injections), while anti-diabetic medications (such as metformin and semaglutide) and lifestyle modificatio ...
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Cancer
Cancer is a group of diseases involving Cell growth#Disorders, abnormal cell growth with the potential to Invasion (cancer), invade or Metastasis, spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible Signs and symptoms of cancer, signs and symptoms include a lump, abnormal bleeding, prolonged cough, unexplained weight loss, and a change in defecation, bowel movements. While these symptoms may indicate cancer, they can also have other causes. List of cancer types, Over 100 types of cancers affect humans. Tobacco use is the cause of about 22% of cancer deaths. Another 10% are due to obesity, poor Diet (nutrition), diet, sedentary lifestyle, lack of physical activity or Alcohol abuse, excessive alcohol consumption. Other factors include certain infections, exposure to ionizing radiation, and environmental pollutants. infectious causes of cancer, Infection with specific viruses, bacteria and parasites is an environmental factor cau ...
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Celiac Disease
Coeliac disease (British English) or celiac disease (American English) is a long-term autoimmune disorder, primarily affecting the small intestine. Patients develop intolerance to gluten, which is present in foods such as wheat, rye, spelt and barley. Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally. Non-classic symptoms are more common, especially in people older than two years. There may be mild or absent gastrointestinal symptoms, a wide number of symptoms involving any part of the body, or no obvious symptoms. Due to the frequency of these symptoms, coeliac disease is often considered a systemic disease, rather than a gastrointestinal condition. Coeliac disease was first described as a disease which initially presents during childhood; however, it may develop at any age. It is associated with other autoimmune diseases, such as Type 1 ...
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American Academy Of Allergy, Asthma, And Immunology
Founded in 1943, the American Academy of Allergy, Asthma & Immunology (AAAAI) is a professional medical membership organization of more than 7,000 allergists/ immunologists and related professionals around the world with advanced training and experience in allergy, asthma and other immunologic diseases. The Academy is dedicated to the advancement of the knowledge and practice of allergy, asthma and immunology for optimal patient care. Most members of the AAAAI are board-certified allergist/immunologists. A select group of the membership are elected as Fellows and carry the title FAAAAI. The organization, headquartered in Milwaukee, Wisconsin, hosts a website for patients and healthcare professionals that includes a physician referral directory for patients. Mission The AAAAI is dedicated to the advancement of the knowledge and practice of allergy, asthma, and immunology for optimal patient care. History The American Academy of Allergy, Asthma, and Immunology (AAAAI) dates back t ...
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TNFRSF13B
Transmembrane activator and CAML interactor (TACI), also known as tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) is a protein that in humans is encoded by the ''TNFRSF13B'' gene. TNFRSF13B is a transmembrane protein of the TNF receptor superfamily found predominantly on the surface of B cells, which are an important part of the immune system. TACI recognizes three ligands: APRIL, BAFF and CAML. Function TACI is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It was originally discovered because of its ability to interact with calcium-modulator and cyclophilin ligand (CAML). TACI was later found to play a crucial role in humoral immunity by interacting with two members of the TNF family: B-cell activating factor (BAFF) and a proliferation-inducing ligand (APRIL). These proteins signal through TACI inducing activation of several transcription factors including NFAT, AP-1, and NF-kappa-B which then modulate cellul ...
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MSH5
MutS protein homolog 5 is a protein that in humans is encoded by the ''MSH5'' gene. Function This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair or meiotic recombination processes. This protein is similar to a Saccharomyces cerevisiae protein that participates in meiotic segregation fidelity and crossing-over. This protein forms heterooligomers with another member of this family, mutS homolog 4. Alternative splicing results in four transcript variants encoding three different isoforms. Mutations Mice Zygosity#homozygous, homozygous for a null Msh5 mutation (Msh5-/-) are viable but sterile. In these mice, the Meiosis#prophase I, prophase I stage of meiosis is defective due to the disruption of Bivalent (genetics), chromosome pairing. This meiotic failure leads, in male mice, to diminution of testicle, testicular size, and in female mice, to a complete loss of Ovary, ovarian structures. A genetic investigation was performed to ...
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OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ( ...
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Immunoglobulin
An antibody (Ab) or immunoglobulin (Ig) is a large, Y-shaped protein belonging to the immunoglobulin superfamily which is used by the immune system to identify and neutralize antigens such as pathogenic bacteria, bacteria and viruses, including those that cause disease. Each individual antibody recognizes one or more specific antigens, and antigens of virtually any size and chemical composition can be recognized. Antigen literally means "antibody generator", as it is the presence of an antigen that drives the formation of an antigen-specific antibody. Each of the branching chains comprising the "Y" of an antibody contains a paratope that specifically binds to one particular epitope on an antigen, allowing the two molecules to bind together with precision. Using this mechanism, antibodies can effectively "tag" the antigen (or a microbe or an infected cell bearing such an antigen) for attack by cells of the immune system, or can neutralize it directly (for example, by blocking a p ...
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Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properties, and its behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code (its genotype) and the influence of environmental factors. Both factors may interact, further affecting the phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams ...
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Neonatal Infection
Neonatal infections are infections of the neonate (newborn) acquired during prenatal development or within the first four weeks of life. Neonatal infections may be contracted by mother to child transmission, in the birth canal during childbirth, or after birth. Neonatal infections may present soon after delivery, or take several weeks to show symptoms. Some neonatal infections such as HIV, hepatitis B, and malaria do not become apparent until much later. Signs and symptoms of infection may include respiratory distress, temperature instability, irritability, poor feeding, failure to thrive, persistent crying and skin rashes. Risk factors include previous maternal infection, preterm delivery (< 37 weeks gestation) and premature rupture of membranes (breakage of the