期刊
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
卷 48, 期 4, 页码 498-500出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPG.0b013e31818550de
关键词
AIRE gene; Autoimmune hepatitis; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
The present report describes AIRE gene analysis in 25 children with autoimmune hepatitis type I or II. The heterozygous transversion c.961C > G (p.Ser278Arg) located in exon 7 was identified in 4 patients with autoimmune hepatitis type I, and mostly in those presenting with a positive family history for autoimmune diseases. In this subgroup of patients, the allelic frequency of this polymorphic variant was at least 3-fold higher than in healthy controls. These results suggest that heterozygous AIRE gene mutation may represent a genetic predisposition to childhood autoimmune hepatitis type I. JPGN 48:498-500, 2009.
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