Skip Navigation LinksHome > April 2014 - Volume 58 - Issue 4 > Autoantibody and Human Leukocyte Antigen Profiles in Childre...
Journal of Pediatric Gastroenterology & Nutrition:
doi: 10.1097/MPG.0000000000000245
Original Articles: Hepatology and Nutrition

Autoantibody and Human Leukocyte Antigen Profiles in Children With Autoimmune Liver Disease and Their First-Degree Relatives

Wang, Pengyun*; Su, Haibin||; Underhill, James*; Blackmore, Laura J.*; Longhi, Maria Serena*; Grammatikopoulos, Tassos; Okokon, Elizabeth Veronica; Davies, Edward T.§; Vergani, Diego*; Mieli-Vergani, Giorgina; Ma, Yun*

Continued Medical Education
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Objective: Familial clustering of juvenile autoimmune liver disease (AILD), including autoimmune hepatitis and autoimmune sclerosing cholangitis (ASC), is rare, despite a high prevalence of autoimmune disorders in AILD families.

Methods: To investigate this discrepancy, we measured autoantibodies diagnostic for AILD, anti-nuclear, anti-smooth muscle, anti-liver kidney microsomal type 1, anti-liver cytosol type 1, and anti-soluble liver antigen antibodies, and human leukocyte antigen profiles in 31 patients and 65 of their first-degree relatives (FDR). The autoantibody profile was compared with that of 42 healthy subjects (HS).

Results: Autoantibodies were detected in 71% (22/31) patients. Anti-nuclear antibody or anti-smooth muscle antibody were present in 4/65 FDR (6.2%). HS were negative for all autoantibodies. The frequencies of homozygous HLA DRB1*0301 (DR3) genes and haplotype A1-B8-DR3 were higher in the patients (25% and 43%) than in FDR (9% and 27%) and HS (0% and 16%). The frequencies of disease-protective genes DR4 and/or DR15 were lower in the patients (25%) than in FDR (42%) and HS (42%). Only 1 family contained 2 patients with AILD, 1 with ASC and 1 with primary sclerosing cholangitis. Both patients possessed A1-B8-DR3 genes, the ASC being homozygous and the primary sclerosing cholangitis heterozygous. Six FDR had nonhepatic autoimmune disorders, none being autoantibody positive.

Conclusions: Homozygosity for DR3 plays a major role in the predisposition to juvenile AILD. Diagnostic autoantibodies for AILD are rare among patients’ FDR and not linked to clinical manifestation of AILD.

© 2014 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,


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