title: Immunogenetical penetrance in patients with primary biliary cirrhosis.
abstract: Two family cases of primary biliary cirrhosis (PBC) followed by the existence of autoantibodies such as anti-mitochondrial antibody, anti-nuclear antibody and anti-thyroid antibody are reported. Case O M has typical PBC, however, case H E is complicated by asymptomatic polymyositis. Common haplotypes of human leukocyte antigen (HLA) were observed as A24-Bw61 in the family members of case O M who had autoantibodies. Only the mother of case H E had identical HLA haplotypes such as A2, Aw31, Bw46, Bw61, DRw8, DRw52 and DQw1. From these results, it can be suggested that immunogenetic penetrance might be associated with the occurrence of familial PBC.
authors.affiliation: Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Shibasaki
authors.forename: T
authors.initials: T
authors.lastname: Shimada
authors.forename: T
authors.initials: T
authors.lastname: Morita
authors.forename: O
authors.initials: O
authors.lastname: Sakai
mesh_terms: D001323:Autoantibodies / Q000032:analysis / Q000276:immunology; D001327:Autoimmune Diseases / Q000150:complications / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000150:complications / Q000235:genetics* / Q000276:immunology; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D009220:Myositis / Q000150:complications
chemical_list: D001323:Autoantibodies; D006680:HLA Antigens