Autoantibodies and immunogenetics in 30 patients with systemic sclerosis and their families.
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.
D000974:Antibodies, Antinuclear / Q000032:analysis; D001323:Autoantibodies / Q000032:analysis* / Q000235:genetics; D003181:Complement C4 / Q000032:analysis; D015934:Complement C4a; D015935:Complement C4b; D005260:Female; D006680:HLA Antigens / Q000032:analysis*; D015234:HLA-A Antigens; D015236:HLA-C Antigens; D006681:HLA-D Antigens / Q000032:analysis; D006684:HLA-DR Antigens / Q000032:analysis; D015805:HLA-DR5 Antigen; D006239:Haplotypes; D006801:Humans; D008285:Major Histocompatibility Complex; D008297:Male; D010375:Pedigree; D012595:Scleroderma, Systemic / Q000235:genetics / Q000276:immunology*
D000974:Antibodies, Antinuclear; D001323:Autoantibodies; D003181:Complement C4; D006680:HLA Antigens; D015234:HLA-A Antigens; D015236:HLA-C Antigens; D006681:HLA-D Antigens; D006684:HLA-DR Antigens; D015805:HLA-DR5 Antigen; D015934:Complement C4a; D015935:Complement C4b