PMID- 2089179 OWN - NLM STAT- MEDLINE DCOM- 19910528 LR - 20191029 IS - 0021-5120 (Print) IS - 0021-5120 (Linking) VI - 29 IP - 5 DP - 1990 Sep-Oct TI - Immunogenetical penetrance in patients with primary biliary cirrhosis. PG - 533-6 AB - 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. FAU - Shibasaki, T AU - Shibasaki T AD - Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan. FAU - Shimada, T AU - Shimada T FAU - Morita, T AU - Morita T FAU - Sakai, O AU - Sakai O LA - eng PT - Case Reports PT - Journal Article PT - Review PL - Japan TA - Jpn J Med JT - Japanese journal of medicine JID - 0247713 RN - 0 (Autoantibodies) RN - 0 (HLA Antigens) SB - IM MH - Autoantibodies/analysis/immunology MH - Autoimmune Diseases/complications/*genetics/immunology MH - Genetic Predisposition to Disease MH - HLA Antigens/genetics MH - Haplotypes MH - Humans MH - Liver Cirrhosis, Biliary/complications/*genetics/immunology MH - Liver Function Tests MH - Male MH - Middle Aged MH - Myositis/complications RF - 14 EDAT- 1990/09/01 00:00 MHDA- 1990/09/01 00:01 CRDT- 1990/09/01 00:00 PHST- 1990/09/01 00:00 [pubmed] PHST- 1990/09/01 00:01 [medline] PHST- 1990/09/01 00:00 [entrez] AID - 10.2169/internalmedicine1962.29.533 [doi] PST - ppublish SO - Jpn J Med. 1990 Sep-Oct;29(5):533-6. doi: 10.2169/internalmedicine1962.29.533.