Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011633 (dermatomyositis)
 4,181 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient is described who had insulin-dependent diabetes mellitus for 2 years, prior to developing rheumatoid arthritis and then subsequently ankylosing spondylitis and dermatomyositis. Diagnostic criteria for all diseases are fulfilled. HLA typing revealed the presence of HLA A2, A9, B8, B27, DR3 and DR4 antigens. The concomitant coexistence of diabetes mellitus, rheumatoid arthritis, ankylosing spondylitis and dermatomyositis appears to have occurred in an individual genetically susceptible to these diseases.
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PMID:Coexistence of rheumatoid arthritis, ankylosing spondylitis and dermatomyositis in a patient with diabetes mellitus and the associated linked HLA antigens. 336 34

Mononuclear cells were isolated from the inflamed muscle tissue of a patient suffering from dermatomyositis (DM). These were expanded in long-term culture and maintained in the presence of IL-2 containing culture medium. Two cell lines were established, one of the helper/inducer (OKT4+) and the other of the suppressor/cytotoxic phenotype (OKT8+). The OKT4+ cell line exhibited a non HLA-restricted, tissue-specific, myocytotoxic effect on rat muscle cell culture. Its lymphoproliferative response to human muscle antigen was HLA-restricted. The OKT8+ cell line exhibited a non HLA-restricted, tissue-specific response to muscle antigens and no myocytotoxic activity in in vitro rat muscle cell culture. It is likely that clones of OKT4+ lymphocytes in patients suffering from DM are associated with the pathogenesis of the disease--they probably mediate the diffuse damage to skeletal muscle through their myocytotoxic activity.
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PMID:Human muscle-derived, tissue specific, myocytotoxic T cell lines in dermatomyositis. 349 94

Ninety children with definite juvenile dermatomyositis (JDMS), who had been HLA typed, were tested for the presence of tissue or organ-specific antibodies. Sixty had active disease at the time of study. The mean disease duration was 4 years, and 30 had soft tissue calcifications. The following autoantibodies were sought: thyroid, gastric parietal cells, smooth muscle, striated muscle, microsomes, mitochondria, DNA, extractable nuclear antigen, Sm, PM-1, antinuclear antibody (ANA), and rheumatoid factor. Only the ANA and PM-1 were more frequent in patients than in controls (P less than 0.0002 and P less than 0.001, respectively). Higher levels of immune complexes (P less than 0.01) were found in sera from patients with JDMS than in sera from controls and were correlated with the presence of ANA in patients (P less than 0.01). Soft tissue calcification was not associated with any autoantibody or HLA antigen, but with disease duration and activity (P less than 0.001 and P less than 0.05, respectively). There was no association between the occurrence of any autoantibody and the presence of HLA-B8 or DR3 among the white patients with JDMS. The frequency of autoantibodies in 43 full siblings of children with JDMS was not increased. We conclude that children with JDMS, with or without HLA-B8/DR3, do not show evidence of a generalized nonspecific antibody response to tissue antigens. The significance of the increased antibody to nuclear antigens ANA and PM-1 remains to be determined.
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PMID:Immunogenetic studies of juvenile dermatomyositis. III. Study of antibody to organ-specific and nuclear antigens. 387 16

Dermatomyositis developed during treatment with penicillamine in two patients with rheumatoid arthritis. Both were male without a history of penicillin allergy. Eosinophilia was present at the start of their illness, and HLA tissue typing showed the presence of HLA-DR2 in one patient. One patient was retreated with penicillamine and remained asymptomatic after three years of therapy, and the other was able to take penicillamine in a reduced dosage.
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PMID:Penicillamine-induced myositis. Observations and unique features in two patients and review of the literature. 659 72

Typing for HLA-A and -B antigens was performed on 87 children with definite juvenile dermatomyositis (JDMS). A significantly increased frequency of HLA-B8 (estimated relative risk = 2.8, Pc less than 0.01) was observed among White patients, but not among Blacks or Latin Americans with JDMS. No abnormality of HLA haplotype segregation was observed among 38 healthy siblings of the JDMS probands.
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PMID:Immunogenetic studies of juvenile dermatomyositis. HLA antigens in patients and their families. 660 15

Forty-eight patients with various kinds of myositis were studied for HLA-A, B, C, and DR antigens and compared to both local and 7th International Workshop controls. No A, B, or C antigens were increased except for B8 in white patients (7/13 or 54%) (p = 0.005, pc = NS) and for B7 in black patients (6/9 or 67%) (p = 0.02, pc = NS). HLA-DR3 occurred in 8/12, or 67% of whites with polymyositis (PM) as compared to 23% of white controls (p = 0.003, pc = 0.02). HLA-DRw6 was found in 7/9, or 78%, of blacks with PM compared to 26% of black local controls (p = 0.005, pc = 0.04) and 38% of black Workshop controls (p-0.05, pc = NS). Dermatomyositis (DM) patients, however, showed no increased frequencies of any HLA antigens. HLA-DR4 was decreased overall (p = 0.005, pc = 0.04). These immunogenetic differences between PM and DM suggest that they are pathogenetically different disorders.
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PMID:HLA-D related (DR) antigens in various kinds of myositis. 694 1

33 patients with idiopathic inflammatory myopathies (polymyositis or dermatomyositis) and 45 of their first-degree relatives were investigated in a search for any influence of genetic factors in these diseases. None of the relatives had evidence of an inflammatory myopathy but 13 had some other autoimmune disease. Mean serum IgG levels were reduced and serum C3c concentration increased both in patients and relatives. Levels of IgM were reduced and C4 increased in some groups of patients. The incidence of autoantibodies was increased in the patient group, particularly in those with isolated dermatomyositis or other systemic features, but not in the relatives. HLA, blood group and other genetic markers showed no deviation from normal population frequencies. Evidence favouring a genetic influence on the etiology of idiopathic inflammatory myopathy is restricted to disturbance of levels of some Ig and complement components, and for these there may be other explanations.
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PMID:A search for genetic influence in idiopathic inflammatory myopathy. 695 66

Twenty-one children were diagnosed as having juvenile dermatomyositis on the basis of the strict criteria of Bohan and Peter. In addition to the typical skin and muscle changes, abnormalities of esophageal motility (eight of 19), pulmonary function (14 of 17), ECG (10 of 20), and gastrointestinal absorption of D-xylose (two of eight) with active disease were observed. Clinical signs of other collagen vascular disease appeared in five children. Serologic evaluation demonstrated that ANA and rheumatoid factor were transiently positive in six; one child developed a persistently positive rheumatoid factor after four years of disease inactivity. Antibody to ENA was negative in all, but antibody to PM-1 antigen was present in four of 18. Six had a low C3 or C4; evidence of immune complexes was demonstrated by Clq or Raji binding in eight with active disease. One child was IgA deficient. The HLA-B8 antigen was present in 72% of the Caucasian children as compared with the expected incidence of 21%. Therefore, classical dermatomyositis in children has more systemic involvement then previously appreciated, may be related to the presence of circulating immune complexes, and appears to be under immunogenetic control.
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PMID:Juvenile dermatomyositis: a clinical and immunologic study. 696 9

Antibodies to Jo-1, a saline extractable nuclear antigen, were found in 11/47 (23%) patients with myositis and in 0/35 controls with systemic lupus erythematosus or progressive systemic sclerosis (p less than or equal to 0.01). Within myositis subgroups, anti-Jo-1 occurred in 6/20 (30%) with polymyositis, 2/16 (13%) with dermatomyositis and 3/7 (43%) with overlap. There was an association between Jo-1 antibodies and HLA-DR3, irrespective of race or clinical subgroups (p less than or equal to 0.05). All anti-Jo-1 positive patients had either HLA-DR3, HLA-DRW6 or both (p less than or equal to 0.01). Thus, this antibody system might arise as a result of an aberrant immune response mediated at or near HLA-D in patients with myositis.
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PMID:The Jo-1 antibody system in myositis: relationships to clinical features and HLA. 697 32

The genes most commonly considered when investigating immunogenetic associations with autoimmune diseases, including inflammatory muscle disease (IMD), are those encoded in the major histocompatibility complex (MHC), the T-cell receptor (TCR) genes and the immunoglobulin genes. In caucasoids HLA DR3 is associated with adult polymyositis (PM) and juvenile dermatomyositis (JDM) and is probably increased in frequency in adult DM. In inclusion body myositis (IBM) DR3 and DR1 have been separately reported to be increased but few patients have been analysed. The DR3 in IMD is almost always present on the ancestral haplotype marked by HLA-B8, C4A*Q0 and DR3 and presumably accounts for the association with C4A*Q0 which has been reported in some subgroups of IMD. In other races the associations are less clear although DR6 may be increased in blacks with PM. In PM, DR3 is strongly associated with the presence of antibodies to histidyl tRNA synthetase (Jo-1). DR52 is even more strongly associated with the presence of this autoantibody and this association can be demonstrated in black and white patients. It is unlikely that DR3 is associated with autoantibodies to other aminoacyl-tRNA synthetases or signal recognition proteins although fewer cases have been reported and racial differences may exist. Antibodies to the Pm-Scl antigen are also associated with DR3 while autoantibodies to Mi-2 may be associated with DR53. In caucasoids DR4 was increased in D-penicillamine induced IMD but again there may be inter-racial differences. Amongst caucasoids with mixed connective tissue disease (MCTD) there is an increased frequency of DR4 and this allele is associated with the development of antibodies to ribonucleoprotein (RNP). In other races the data are minimal. Very few investigations of associations between TCR polymorphisms or immunoglobulin allotypes and IMD have been reported. The phenotype Gm 3;5 has been associated with PM in caucasoids and may interact with DR3 in predisposing to disease. The Gm phenotype 1,3;5,21 has been associated with MCTD and with the development of anti-RNP, with or without MCTD, in caucasoids. Multiple genetic factors are likely to determine the development of IMD and the particular combination of alleles at predisposing loci may differ between races and according to the inducing agent. Furthermore, the predisposing genetic factors may vary between subgroups of IMD.
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PMID:Immunogenetics of inflammatory myopathies. 815 44


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