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HLA-DR3
HLA-DR3 is composed of the HLA-DR17 and HLA-DR18 split 'antigens' serotypes. DR3 is a component gene-allele of the AH8.1 haplotype in Northern and Western Europeans. Genes between B8 and DR3 on this haplotype are frequently associated with autoimmune disease. Type 1 diabetes mellitus is associated with HLA-DR3 or HLA-DR4. Nearly half the US population has either DR3 or DR4 (only 1–3% have both), yet only a small percentage (about 0.5%) of these individuals will develop type 1 diabetes. Serology Some DR3 also react with HLA-DR17 and/or HLA-DR18. The DRB1*03:04 primarily reacts with DR3. The serotypes of *03:05, *03:06, *03:08 to *03:31 are unknown. Disease associations By serotype HLA-DR3 is associated with early-age onset myasthenia gravis, Hashimoto's thyroiditis (along with DR5), primary sclerosing cholangitis, and opportunistic infections in AIDS, but lowered risk for cancers. It is also associated with membranous glomerulonephritis By allele DRB1*03:01 (see HLA- ...
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HLA A1-B8-DR3-DQ2
HLA A1-B8-DR3-DQ2 haplotype (Also: ''AH8.1'', ''COX'', ''Super B8'', ''ancestral MHC 8.1'' or ''8.1 ancestral haplotype'') is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be confused with the HLA-DQ heterodimer DQ8.1). A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles; common multigene haplotypes are generally the result of descent by common ancestry (share a recent common ancestor for that segment of the chromosome). Chromosomal recombination fragments multigene haplotypes as the distance to that ancestor increases in number of generations. The haplotype can be written in an extended form covering the major histocompatibility loci as follows: HLA A : Cw : B : DRB1 : DQA1 : DQB1 or shorthand A1::DQ2 There are many other gene-alleles within the haplotype, including more than 250 coding loci that produce transcripts. At 4.7 million nucleotides in length, A1::DQ2 is th ...
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HLA DR3-DQ2
HLA DR3-DQ2 is a double serotype that specifically recognizes cells from individuals who carry a multigene HLA DR, DQ haplotype. Certain HLA DR and DQ genes have known involvement in autoimmune diseases. DR3- DQ2, a multigene haplotype, stands out in prominence because it is a factor in several prominent diseases, namely coeliac disease and juvenile diabetes. In coeliac disease, the DR3-DQ2 haplotype is associated with highest risk for disease in first degree relatives, highest risk is conferred by DQA1*0501:DQB1*0201 homozygotes and semihomozygotes of DQ2, and represents the overwhelming majority of risk. HLA DR3-DQ2 encodes DQ2.5cis isoform of HLA-DQ, this isoform is described frequently as 'the DQ2 isoform', but in actuality there are two major DQ2 isoform. The DQ2.5 isoform, however, is many times more frequently associated with autoimmune disease, and as a result to contribution of DQ2.2 is often ignored. The frequency of both diseases changes concerning both the env ...
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HLA-DQ2
HLA-DQ2 (DQ2) is a serotype group within HLA-DQ (DQ) serotyping system. The serotype is determined by the antibody recognition of β2 subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ2 are encoded by the HLA-DQB1 allele group. This group currently contains two common alleles, DQB1 and DQB1. HLA-DQ2 and HLA-DQB1*02 are almost synonymous in meaning. DQ2 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, nicknamed DQ2.2 and DQ2.5, are also encoded by the DQA1 and DQA1 genes, respectively. DQ2 is most common in Western Europe, North Africa and East Africa. Highest frequencies are observed in parts of Spain and Ireland; this distribution correlates with the frequency of two of the most prevalent autoimmune diseases. There is also an increase in DQB1 in Central Asia, peaking in Kazakhstan and declining slowly west to east into China and finally Southeast Asia. DQA1 : DQ ...
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Diabetes Mellitus Type 1
Type 1 diabetes (T1D), formerly known as juvenile diabetes, is an autoimmune disease that occurs when the body's immune system destroys pancreatic cells (beta cells). In healthy persons, beta cells produce insulin. Insulin is a hormone required by the body to store and convert blood sugar into energy. T1D results in hyperglycemia, high blood sugar levels in the body prior to treatment. Common symptoms include polyuria, frequent urination, polydipsia, increased thirst, polyphagia, increased hunger, weight loss, and other complications. Additional symptoms may include blurry vision, fatigue (medical), tiredness, and slow wound healing (owing to impaired blood flow). While some cases take longer, symptoms usually appear within weeks or a few months. The cause of type 1 diabetes is not completely understood, but it is believed to involve a combination of genetic and environmental factors. The underlying mechanism involves an autoimmune destruction of the insulin-producing beta cells ...
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HLA-DR52
HLA-DR52 is an HLA-DR serotype that recognizes gene products of HLA-DRB3 locus. Three allele groups can produce 35 isoforms. DRB3, DRB4, and DRB5 are minor DR beta-encoding loci, and they have been recognized as having distinct evolution, having diverged from DRB1 around 4 million years ago. The DRB3 locus is only apparent in a small subset of DR haplotypes, and most individuals lack DRB3. Alleles Associated diseases DR52 serotype is positively associated with systemic sclerosis, inflammatory myopathies, inclusion body myositis, DRB3*01 is positively associated with sarcoidosis, Grave's Disease, pulmonary sarcoidosis, DRB3*01:01:DRB1*03:01 is linked to Lofgren's syndrome DRB3*02:02 is also linked to Grave's disease, serum IgG antibodies to ''Chlamydia pneumoniae'' with essential hypertension, acute necrotizing encephalopathy DRB3*03:01 is weakly associated with anticardiolipin antibodies in SLE DRB3*03:01:DRB1*13:02 may be associated with Crohn's disease DRB1 linkage H ...
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HLA-DR17
HLA-DR17 (DR17) is an HLA- DR serotype that recognizes the DRB1*0301 and *0304 gene products. DR17 is found at high frequency in Western Europe (such as Western Ireland, N. Spain, Sardinia). DR17 is part of the broader antigen group HLA-DR3 and is very similar to the group HLA-DR18. Serology DR17 recognizes the DRB1*0301, *0304 alleles. Disease associations By serotype DR17 is associated with non-chronic sarcoidosis, infantile spasm/epilepsy, rabies vaccine-induced autoimmune encephalomyelitis and cardiovascular hypertrophy in subjects with arterial hypertension People with DR17 show a tendency toward benzylpenicilloyl allergies. By allele DRB1*0301: diabetes mellitus type 1, myositis, early onset Graves disease, type 1 autoimmune hepatitis, inflammatory inclusion body myositis. In autoimmune hepatitis, DRB1*0301 correlates with more severe and difficult to treat disease. By haplotype DRB1*0301:DQA1*05:DQB1*0201 is associated with diabetes mellitus type 1, ovarian cancer, ...
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HLA-B8
HLA-B8 (B8) is an HLA- B serotype. The serotype identifies the HLA-B*08 gene products. (For terminology help see: HLA-serotype tutorial) HLA-B8, previously known as HL-A8 was one of the first identified of the HLA antigens. It coined the "Super B8" haplotype, also called the ancestral European haplotype because of its common occurrence in Europe, particular the isles and Scandinavia. B8 is a component gene-allele of the AH8.1 haplotype in Northern and Western Europeans. Genes between B8 and DR3 on this haplotype are frequently associated with autoimmune disease. Serotype Alleles References {{DEFAULTSORT:Hla-B8 0 ...
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HLA-DR
HLA-DR is an MHC class II cell surface receptor encoded by the human leukocyte antigen complex on chromosome 6 region 6p21.31. The complex of HLA-DR (Human Leukocyte Antigen – DR isotype) and peptide, generally between 9 and 30 amino acids in length, constitutes a ligand for the T-cell receptor (TCR). HLA (human leukocyte antigens) were originally defined as cell surface antigens that mediate graft-versus-host disease. Identification of these antigens has led to greater success and longevity in organ transplant. Antigens most responsible for graft loss are HLA-DR (first six months), HLA-B (first two years), and HLA-A (long-term survival). Good matching of these antigens between host and donor is most critical for achieving graft survival. HLA-DR is also involved in several autoimmune conditions, disease susceptibility and disease resistance. It is also closely linked to HLA-DQ and this linkage often makes it difficult to resolve the more causative factor in disease. HLA-DR mo ...
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AIDS
The HIV, human immunodeficiency virus (HIV) is a retrovirus that attacks the immune system. Without treatment, it can lead to a spectrum of conditions including acquired immunodeficiency syndrome (AIDS). It is a Preventive healthcare, preventable disease. It can be managed with treatment and become a manageable chronic health condition. While there is no cure or vaccine for HIV, Management of HIV/AIDS, antiretroviral treatment can slow the course of the disease, and if used before significant disease progression, can extend the life expectancy of someone living with HIV to a nearly standard level. An HIV-positive person on treatment can expect to live a normal life, and die with the virus, not of it. Effective #Treatment, treatment for HIV-positive people (people living with HIV) involves a life-long regimen of medicine to suppress the virus, making the viral load undetectable. Treatment is recommended as soon as the diagnosis is made. An HIV-positive person who has an ...
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Dermatitis Herpetiformis
Dermatitis herpetiformis (DH) is a chronic autoimmune blistering skin condition, characterised by intensely itchy blisters filled with a watery fluid. DH is a cutaneous manifestation of coeliac disease, although the exact causal mechanism is not known. DH is neither related to nor caused by herpes virus; the name means that it is a skin inflammation having an appearance (Latin: '' -formis'') similar to herpes. The age of onset is usually about 15 to 40, but DH also may affect children and the elderly. Men are slightly more affected than women. Estimates of DH prevalence vary from 1 in 400 to 1 in 10,000. It is most common in patients of northern European and northern Indian ancestry, and is associated with the human leukocyte antigen (HLA) haplotype HLA-DQ2 or HLA-DQ8 along with coeliac disease and gluten sensitivity. Dermatitis herpetiformis was first described by Louis Adolphus Duhring in 1884. A connection between DH and coeliac disease was recognized in 1967. Signs and ...
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Coeliac 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 d ...
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Systemic Lupus Erythematosus
Lupus, formally called systemic lupus erythematosus (SLE), is an autoimmune disease in which the body's immune system mistakenly attacks healthy tissue in many parts of the body. Symptoms vary among people and may be mild to severe. Common symptoms include painful and swollen joints, fever, chest pain, hair loss, mouth ulcers, swollen lymph nodes, feeling tired, and a red rash which is most commonly on the face. Often there are periods of illness, called flares, and periods of remission during which there are few symptoms. Children up to 18 years old develop a more severe form of SLE termed childhood-onset systemic lupus erythematosus. The cause of SLE is not clear. It is thought to involve a combination of genetics and environmental factors. Among identical twins, if one is affected there is a 24% chance the other one will also develop the disease. Female sex hormones, sunlight, smoking, vitamin D deficiency, and certain infections are also believed to increa ...
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