Immunogenetical penetrance in patients with primary biliary cirrhosis

Toshiaki SHIBASAKI, Takashi SHIMADA, Takashi MORITA, Osamu SAKAI
1990 Japanese Journal of Medicine  
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 Mhas typical PBC, however case H E is complicated by asymptomatic polymyositis. Commonhaplotypes 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 HLAhaplotypes such as A2, Aw31, Bw46,
more » ... , DRw8, DRw52and DQwl. From these results, it can be suggested that immunogenetic penetrance might be associated with the occurrence of familial PBC.
doi:10.2169/internalmedicine1962.29.533 fatcat:qj4o62bzx5fnbe6x6iq4fqmlwi