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HLA-DR12
HLA-DR12(DR12) is a HLA- DR serotype that recognizes the DRB1*1201 to *1203, *1206. DR12 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR11 antigens. Serology The table above describes the efficiency of serological typing of DR12 and DR5. Serotypes are unknown the following alleles: DRB1*1204,*1205 to *1207 to *1215 Alleles There are only 2 common allels for DRB1*12, *1201 and *1202. *1202 is more common on the West Pacific Rim and particularly Indochina and the South Pacific. Disease associations DR12 is associated with vulval lichen sclerosus, and undifferentiated spondyloarthritis. DRB1*1201 is associated with iritis in juvenile arthritis, primary antiphospholipid syndrome, tiopronin intolerance in rheumatoid arthritis, adult chronic articular Still's disease DRB1*1202 is found to be increased in narcolepsy associated sudden death syndrome in the Thai population, and narcolepsy in the Japanese population. Extend ...
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HLA-DR5
HLA-DR5 (DR5) is a broad-antigen serotype that is further split into HLA-DR11 and HLA-DR12 antigen serotypes. HLA-DR5 (Human Leukocyte Antigen DR5) is a protein that is encoded by a gene in the human leukocyte antigen (HLA) complex. The HLA complex is a group of genes located on chromosome 6 that plays a critical role in the immune system. HLA-DR5 is a type of HLA class II molecule that is expressed on the surface of immune cells called dendritic cells and monocytes. HLA-DR5 is involved in the presentation of peptides, which are short chains of amino acids, to T cells, a type of immune cell that plays a key role in the immune response. When HLA-DR5 presents a peptide to a T cell, it can stimulate the T cell to become activated and mount an immune response against the peptide. HLA-DR5 has been the focus of research in the field of immunology due to its potential role in the development of autoimmune disorders, such as rheumatoid arthritis, and in the response to certain infection ...
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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*0101:DRB1*0301 is linked to Lofgren's syndrome DRB3*0202 is also linked to Grave's disease, serum IgG antibodies to ''Chlamydia pneumoniae'' with essential hypertension, acute necrotizing encephalopathy DRB3*0301 is weakly associated with anticardiolipin antibodies in SLE DRB3*0301:DRB1*1302 may be associated with Crohn's disease DRB1 linkage HLA-DRB3 ...
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HLA-DR11
HLA-DR11 (DR11) is a HLA- DR serotype that recognizes the DRB1*1101 to *1110. DR11 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR12 antigens. Serology The table above describes the efficiency of serological typing of DR11 and DR5. Serotypes are unknown the following alleles: DRB1*1110 to *1157 Disease associations By serotype DR11 is associated with grape anaphylaxis, well-differentiated thyroid cancer, low antibody production in Hepatitis C. By allele(s) DRB1*11 is associated systemic sclerosis (SSc) & anti-DNA topoisomerase I (anti-topo I) antibody DRB1*1101 is associated Anti-Ro/SSA with anti-La/SSB antibodies in neonatal lupus erythematosus, mite sensitive asthma, cervical cancer risk (HPV?) DRB1*1102: Tiopronin intolerance in rheumatoid arthritis DRB1*1104: pauciarticular juvenile rheumatoid arthritis By haplotype DR11 is an identifier for the DR11-DQ7/DR7-DQ2 transhaplotype isoform of celiac disease. DR11-D ...
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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 mol ...
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Tiopronin
Tiopronin, sold under the brand name Thiola, is a medication used to control the rate of cystine precipitation and excretion in the disease cystinuria. Due to the rarity of the disorder, tiopronin falls under the classification of an orphan drug. It is somewhat similar to penicillamine in both chemistry and pharmacology. A generic version of tiopronin is available in the United States as of April 2021. Uses Tiopronin is used primarily for cystinuria and is well known in the cystinuric community. Depending on the severity of a person's cystinuria, tiopronin may be taken for life, possibly starting in early childhood. The drug works by reacting with urinary cysteine to form a more soluble, disulfide linked, tiopronin-cysteine complex. Side effects Tiopronin may present a variety of side effects, which are broadly similar to those of D-penicillamine and other compounds containing active sulfhydryl groups. Its pharmacokinetics have been studied. Society and culture In the U.S., th ...
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HLA-C
HLA-C belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides. HLA-C is a locus on chromosome 6, which encodes for many HLA-C alleles that are Class-I MHC receptors. HLA-C, localized proximal to the HLA-B locus, is located on the distal end of the HLA region. Most HLA-C:B haplotypes are in strong linkage disequilibrium and many are as ancient as the human species itself. Disease associations By serotype Cw1: multinodular goiters By allele C*16: B-cell chronic lymphocytic leukemia Nomenclature C*01 *Cw1 serotype: C*01:02 and C*01:09 *Cw11 *C*01:04 to *01:08 C*02 *Cw2 serotype: C*02:02 and *02:08 *C*02:03 to *02:07, and 02:09 C*03 *Cw9 serotype: C*03:03 *Cw10 ser ...
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HLA-A
HLA-A is a group of human leukocyte antigens (HLA) that are encoded by the HLA-A locus, which is located at human chromosome 6p21.3. HLA is a major histocompatibility complex (MHC) antigen specific to humans. HLA-A is one of three major types of human MHC class I transmembrane proteins. The others are HLA-B and HLA-C. The protein is a heterodimer, and is composed of a heavy α chain and smaller β chain. The α chain is encoded by a variant HLA-A gene, and the β chain (β2-microglobulin) is an invariant β2 microglobulin molecule. The β2 microglobulin protein is encoded by the B2M gene, which is located at chromosome 15q21.1 in humans. MHC Class I molecules such as HLA-A are part of a process that presents short polypeptides to the immune system. These polypeptides are typically 7-11 amino acids in length and originate from proteins being expressed by the cell. There are two classes of polypeptide that can be presented by an HLA protein: those that are supposed to be expressed ...
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HLA-DQ3
Within molecular and cell biology, HLA-DQ3 (DQ3) is a broad serotype category with split antigens HLA-DQ7, DQ8, and DQ9. Historically, originally recognized as MB3 a DC4 serotype, DQw3 was one of three early determined antigens recognized as HLA-DQ along with HLA-DQ1 and HLA-DQ2. While the DQ3 molecules are structurally similar in beta chain, the DQ molecules differ markedly in function, even when present with the same DQ alpha subunit. For this reason they are best treated independently. Serology The serotyping efficiency of DQ3 recognition relative to DQ2, DQ7, DQ8, and DQ9 is shown to the left. Compared to DQ2 serotyping of DQB1*0201 positive individuals (98%), the efficiency of DQ3 recognition is relatively low and error prone. This compares to genotyping efficiency of 100%. The recognition of DQB1*0303 by DQ9 and or DQ3 is poorest, DQ2 which recognizes a different DBB1*group recognizes DQB1*0303 as efficiently as DQ3. For this reason DQ3 serotyping is a poor method of ty ...
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HLA-DQ7
HLA-DQ7 (DQ7) is an HLA- DQ serotype that recognizes the common HLA DQB1*0301 and the less common HLA DQB1*0304 gene products. DQ7 is a form of 'split antigen' of the broad antigen group DQ3 which also contains DQ8 and DQ9. DQ7 is linked by haplotype to a number of DQA1 (DQ alpha chain) genes, producing in cis-haplotype form, a large number of DQ αβ isoforms. These DQ alpha chains are also known to form transhaplotype isomers with other HLA-DQ. DQ7 is linked to the following alpha chains genes (DQA1*) * 03 – *0301, *0302, *0303 * 0401 * 0505 * 0601 Serology Serotyping efficiency. The serotyping efficiency of DQ7 toward DQB1*0301 is reasonably good, but still results in some false negatives, for *0304 the typing efficiency is poor and cross-reaction with DQ8 is relatively high. Alleles DQB1*0301 DQB1*0301 is the major DQ7 allele DQB1*0301 appears to be associated with lupus anticoagulant. DQB1*0304 DQB1*0304 is the minor DQ7 allele Haplotypes DQ haplotypes of this ...
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Colorectal Cancer
Colorectal cancer (CRC), also known as bowel cancer, colon cancer, or rectal cancer, is the development of cancer from the colon or rectum (parts of the large intestine). Signs and symptoms may include blood in the stool, a change in bowel movements, weight loss, and fatigue. Most colorectal cancers are due to old age and lifestyle factors, with only a small number of cases due to underlying genetic disorders. Risk factors include diet, obesity, smoking, and lack of physical activity. Dietary factors that increase the risk include red meat, processed meat, and alcohol. Another risk factor is inflammatory bowel disease, which includes Crohn's disease and ulcerative colitis. Some of the inherited genetic disorders that can cause colorectal cancer include familial adenomatous polyposis and hereditary non-polyposis colon cancer; however, these represent less than 5% of cases. It typically starts as a benign tumor, often in the form of a polyp, which over time becomes cancerous. ...
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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, where individuals develop intolerance to gluten, present in foods such as wheat, rye and barley. Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally. This often begins between six months and two years of age. 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. Coeliac disease was first described in childhood; however, it may develop at any age. It is associated with other autoimmune diseases, such as Type 1 diabetes mellitus and Hashimoto's thyroiditis, among others. Coeliac disease is caused by a reaction to gluten, a group of various prote ...
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