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  • Title: Autoantibodies and immunogenetics in 30 patients with systemic sclerosis and their families.
    Author: Pereira S, Black C, Welsh K, Ansell B, Jayson M, Maddison P, Rowell N.
    Journal: J Rheumatol; 1987 Aug; 14(4):760-5. PubMed ID: 3499513.
    Abstract:
    Clinical and serological evidence of connective tissue disease was found in a high proportion of 132 family members of 30 patients with systemic sclerosis. In 20 probands with the milder CREST form of the disease, 10 had HLA-DR5 and 12 had null alleles at the C4 loci. None of 11 probands with more severe systemic sclerosis had HLA-DR5; all 11 had null alleles at the C4 loci. All but two of the probands had either HLA-DR5 or a C4 null allele, and this was also the case for the majority of the relatives with autoantibodies. Genetic markers of the major histocompatibility complex, including HLA-DR5 and C4 null alleles, appear to be closely associated with markers of disease in these probands and their families.
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