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J Pediatr Gastroenterol Nutr. 2009 Apr;48(4):498-500. doi: 10.1097/MPG.0b013e31818550de.

AIRE gene analysis in children with autoimmune hepatitis type I or II.

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Department of Gastroenterology, Hepatology, and Endocrinology, Hannover Medical School, Hannover, Germany.


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.

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