Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

IgA nephropathy (IgAN) has been associated with HLA-DR4. We have recently described two non-allelic Taq I DQ beta gene-associated fragments sized 2.0 kb (T2) and 6.0 kb (T6), which strongly associate with DR4. T2 represents a polymorphism of the DQ beta gene and has been redesignated DQw8 (10th International HLA Workshop). The origin of the T6 fragment has not been determined, but probably represents a polymorphism of either the DQ beta or DX beta gene. When present together T2 and T6 define a subgroup of DR4 subjects at high risk of developing autoimmune disease. We have, therefore, studied DQ beta gene polymorphisms in IgAN. The DR antigen distribution was similar in IgAN and normal controls. The T2+/T6+ phenotype was present in 49% patients with IgAN compared to 15% of controls [P less than 0.0001, chi 2 = 32.8, Cramer's V = 0.41; relative risk = 5.5 (range, 2.8-11.0)]. Seventy-two percent of DR4+ IgAN patients and 29% of DR4+ controls were T2+/T6+ (P = 0.007, chi 2 = 17.0). These findings confirm the hypothesis that disease susceptibility genes are important in IgAN, and suggest that the putative gene(s) are located within or near to the DQ subregion. Moreover, similar DQ beta gene associations have been found in IDDM and pemphigus vulgaris, pointing to a common immunogenetic mechanism predisposing to several autoimmune diseases.
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PMID:HLA DQ region gene polymorphism associated with primary IgA nephropathy. 196 92

Associations between a large number of diseases and markers within the major histocompatibility complex (MHC) have been described. In particular, susceptibility to several autoimmune disorders, including type I diabetes mellitus and rheumatoid arthritis, is linked to genes within the MHC and strong population associations are demonstrable between certain HLA class II alleles and these conditions. Genetic mapping of HLA susceptibility loci has traditionally relied on the use of phenotypic markers defined by alloantisera, cellular typing reagents and biochemical analysis of histocompatibility antigens. Polymerase chain reaction sequence-specific oligonucleotide (PCR-SSO) typing combines the ability to define the finest of HLA specificities, by analysis of the corresponding DNA sequences, with the possibility of study large populations of normal and affected individuals. The applications of this technology to characterizing precisely the MHC loci associated with susceptibility to autoimmune diseases such as rheumatoid arthritis, type I diabetes mellitus, coeliac disease and pemphigus vulgaris are reviewed here.
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PMID:PCR-SSO typing in HLA-disease association studies. 206 41

Autoimmune diseases (AD) are conditions in which there is the development of antibodies against self cells/ organs. AD could either be organ-specific or non-organ specific (systemic) in clinical presentation. Commonly reported ADs includes: Myasthenia gravis, Hashimoto thyroiditis, Guillian-Barre syndrome, vitiligo, type 1 diabetes mellitus, Graves diseases, Goodpastures syndrome, pemphigus, rheumatoid arthritis, systemic lupus erythematosis, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic purpura. There is paucity of locally documented information on the occurrence of AD in same patient in our environment. We therefore report the case of a 66 year old woman who presented at the University College Hospital (UCH), Ibadan, with a spectrum of the AD, Vitiligo, rheumatoid arthritis, myasthenia gravis, impaired glucose tolerance.
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PMID:Autoimmune diseases in a Nigerian woman--a case report. 1500 10

Autoimmune diseases are caused by a defect of the human immune system characterised by an inability to recognize their own antigens and by a pathological response against these antigens. Although the aetiology of these diseases is unknown, there is a number of cellular and molecular mechanisms which can underlie these reactions. Complex interactions between genetic, infectious and/or environmental factors probably contribute to the presence of these diseases. Autoimmune diseases affect 3-8% of the general population; women account for 78-85% of all patients with autoimmune diseases. Although most of those diseases are systemic, some of them primarily affect a single organ or structure. Rarely, a few autoimmune diseases coexist in one person, which can suggest similar pathogenetic mechanisms. In this article we present a review of the literature on coexistence of multiple sclerosis and other autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, chronic active hepatitis, type 1 diabetes mellitus, uveitis, pemphigus, psoriasis, Crohn's disease, inflammatory bowel disease, anaemia and autoimmune thyroiditis.
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PMID:[Multiple sclerosis and other autoimmune diseases]. 1762 20

Extracorporeal photopheresis (ECP) was hailed as a new therapeutic concept for the treatment of diseases caused by aberrant T lymphocytes since it was first described more than twenty years ago. Advances in molecular biology and immunology have allowed a greater understanding of the mechanisms involved in ECP. As a result, ECP is being increasingly considered as a safe and promising immunomodulatory therapy with diverse clinical applications. At present ECP is approved by the FDA for the treatment of cutaneous T-cell lymphoma (CTCL). ECP is considered a relatively safe and promising immunomodulatory therapy with diverse clinical applications reported in the literature. ECP has been used in the treatment of patients following acute allograft rejection in cardiac, lung, renal or liver transplantation, graft-versus-host disease, systemic lupus erythematosus, systemic scleroderma, rheumatoid arthritis and pemphigus vulgaris. The use of ECP as a novel form of therapy is in constant evolution with newer studies focusing on the treatment of patients with Crohn's disease and the immunological effects of ECP in children with type 1 diabetes mellitus. However, because the exact mechanism by which ECP exerts its effects remains to be described in detail and because important questions regarding the use of ECP in the clinical setting, such as length of therapy or design of specific protocols, concomitant use of immunosupressive therapy, patient characteristics, long term side effects, assessment of therapy efficacy and cost effectiveness continue to remain unanswered, the exact role of ECP cannot be fully established except in the case of patients with CTCL and GvHD. Nevertheless, future clinical studies with ECP can be done with the objective of designing more appropriate treatment protocols based on expected patient response and with a side effect profile that is fairly tolerable.
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PMID:Extracorporeal photopheresis: a review on the immunological aspects and clinical applications. 2126 Nov 72

The authors developed an anonymous, Web-based survey instrument available globally, and collected data from 171 pemphigus vulgaris (PV) patients to assemble epidemiologic data pertaining to an extensive set of clinical parameters in demographically diverse populations. The results showed female predominance, prevalent onset of disease in the fifth decade of life, and a strong correlation of PV with thyroid disease and type 1 diabetes in patients and family members. Most patients have a history of either mucosal-only or mucocutaneous lesions, but numerous patients self-report cutaneous lesions only, without previous or concurrent mucosal lesions, especially in the non-North American PV population.
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PMID:A globally available internet-based patient survey of pemphigus vulgaris: epidemiology and disease characteristics. 2160 4

Neuromyelitis optica (NMO) is an immune-mediated neurological disorder characterised by recurrent episodes of optic neuritis and longitudinally extensive transverse myelitis. A serum biomarker, aquaporin-4 IgG, the autoantibody against aquaporin-4 water channel, has been specifically associated with NMO and has assisted early recognition and prediction of relapses. Less commonly, a monophasic course, associated with antibodies to myelin oligodendrocyte glycoprotein has been reported. Specific diagnostic criteria have been defined; however, some cases that do not fulfil these criteria (but are nevertheless associated with aquaporin-4 IgG) are classified as NMO spectrum disorder and follow the same relapsing course. An ever-growing list of autoimmune disorders, both organ-specific and non-organ-specific, have been associated in up to 20-30% of patients with NMO. These disorders, which may become symptomatic before or after the development of NMO, are often diagnosed long after the diagnosis of NMO, as symptoms may be wrongly attributed to NMO, its residual effects or medication side effects. In addition, autoantibodies can be found in patients with NMO without coexisting disease (up to 40% in some series) and maybe suggestive of a heightened humoral immune response. We present a comprehensive review of the current literature on autoimmune disorders co-existing with NMO and identified 22 autoimmune conditions (myasthenia gravis, coeliac disease, ulcerative colitis, sclerosing cholangitis, systemic lupus erythematosus, rheumatoid arthritis, antiphospholipid antibody syndrome, Sjogren's syndrome, autoimmune hypothyroidism, immune thrombocytopenic purpura, pernicious anaemia, narcolepsy, pemphigus foliaceus, alopecia areata, psoriasis, scleroderma, dermatitis herpetiformis, polymyositis, chronic inflammatory demyelinating polyneuropathy, paraneoplastic disorders, insulin dependent diabetes mellitus and autoimmune encephalitis).
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PMID:A review of the current literature and a guide to the early diagnosis of autoimmune disorders associated with neuromyelitis optica. 2451 14