Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042384 (vasculitis)
20,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

HLA-DR haplotypes in patients with scleroderma and vasculitis were compared with those in healthy controls from the Scottish population to investigate whether any associations exist between MHC antigens and development of specific autoantibodies. In patients with systemic vasculitis the presence of any antibodies against neutrophil cytoplasmic antigens (ANCA) was associated with an increased frequency of DR8 [p < 0.004], and no patients expressed the DR5 antigen. However, no significant differences were observed when these patients were subdivided into those with anti-myeloperoxidase (MPO) antibodies or anti-proteinase-3 (PR3) antibodies. Scleroderma patients as a whole showed a lower frequency of DR7 than controls [5.1% cf 28% in control population, p < 0.002]. Following subdivision by autoantibody profile, patients with circulating anti-centromere antibody (ACA) showed an increased frequency of DR1 compared to the control population [p < 0.001]. No scleroderma patient without ACA expressed this haplotype. Associations between MHC and some autoantibodies suggest that antigen presentation could lead to their production.
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PMID:Autoantibody associations with MHC class II antigens in scleroderma and autoimmune vasculitis. 757 53

Primary systemic vasculitis affecting smaller vessels is usually associated with antineutrophil cytoplasmic antibodies (ANCA). The ANCA-associated vasculitides include Wegener's granulomatosis, microscopic polyangiitis, Churg Strauss syndrome and renal limited vasculitis. There is considerable evidence that genetic factors influence susceptibility to ANCA-associated vasculitis, including reports of familial cases, differences in racial incidence, and associations with polymorphic variants of proteins such as alpha-1-antitrypsin. There is mounting evidence, from clinical and in vitro studies, that ANCA may be pathogenic. However, it is also clear that autoreactive T cells are likely to be involved, by providing T cell help for ANCA production and possibly by producing cell-mediated immune injury. Indeed, T cells from patients with vasculitis have been shown to proliferate in vitro in response to the target antigens of ANCA - proteinase 3 and myeloperoxidase. In most T-cell-dependent autoimmune diseases there are clear positive and/or negative associations with HLA genes. These genes are encoded in the major histocompatibility complex (MHC) and their products, the HLA molecules, play a central role in the generation of T cell responses. For this reason, many investigators have looked for HLA associations in ANCA-associated vasculitides. Problems in analysing these reports include the definition of the diseases concerned, and the varying methodology of HLA typing. A number of positive and negative associations with HLA genes have been reported in systemic vasculitis. However, it is striking that no consistent association has been identified in different series. In recent studies there have been positive associations with HLA DR1, DQw7 or DR8, negative associations with DR3 or DR13, or no significant associations. This lack of an obvious and consistent HLA association is extremely interesting, and suggests that the T cell response in vasculitis may be very heterogeneous, or that a genuine strong association has yet to be identified. Further investigation of this problem is clearly needed to improve our understanding of the pathogenesis of ANCA-associated vasculitides.
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PMID:HLA genes in ANCA-associated vasculitides. 949 88

In this study we investigated the association between autoantibodies production and MHC class II alleles in fifty three Egyptian children patients with systemic lupus erythematosus (SLE). A significant association was found between expression of HLA-DR4 and HLA-DR13 genes and the generation of anti-ribonucleoprotein and IgG cardiolipin antibodies respectively, in contrast to the negative association of antinuclear antibodies (ANA) with HLA-DR8 and HLA-DR14. Analysis of HLA-DR alleles and autoantibodies frequencies in relation to different clinical manifestations revealed significant association between HLA-DR13 and vasculitis, while, HLA-DR1 and HLA-DR3 were significantly associated with seizures. In contrast, HLA-DR8, HLA-DR4 and HLA-DR52 alleles were associated with significant protection from arthritis, abnormal kidney function and neuropsychiatric disorders, respectively. SLE autoantibodies, namely anti-DNA antibodies were significantly associated with disturbed kidney function tests and the occurrence of seizures. In contrast, nucleosome antibodies showed no association with renal involvement in childhood onset systemic lupus erythematosus.
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PMID:Human leukocyte antigen and autoantibodies association with juvenile systemic lupus erythematosus. 2205 58