Familial primary biliary cirrhosis. Immunological and genetic study.

A 53-year old male and his daughter (38 years old) had primary biliary cirrhosis. The daughter had a high titer of antimitochondrial and other autoantibodies. Nine members, including, four living sibs, mother and two of the daughter's healthy offspring have been examined for liver function, the presence of autoimmune antibodies, cell mediated immunity and histocompatibility antigens. The eldest and second sons, mother and sisters of the affected daughter had multiple autoimmune reactions including antismooth-muscle antibodies and decreased peripheral T lymphocyte but liver tests were normal except in the eldest son. Histocompatibility antigens HL-A9 and HL-B5 were present in both patients and the elder son. Thus the findings suggest a similar genetic predisposition to immunologic abnormalities among the family members of the patients with primary biliary cirrhosis.