title: AIRE gene analysis in children with autoimmune hepatitis type I or II.
abstract: 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.
authors.affiliation: Department of Gastroenterology, Hepatology, and Endocrinology, Hannover Medical School, Hannover, Germany.
authors.forename: Tim O
authors.initials: TO
authors.lastname: Lankisch
authors.forename: Olivia
authors.initials: O
authors.lastname: Mourier
authors.forename: Etienne M
authors.initials: EM
authors.lastname: Sokal
authors.forename: Dalila
authors.initials: D
authors.lastname: Habes
authors.forename: Florence
authors.initials: F
authors.lastname: Lacaille
authors.forename: Laure
authors.initials: L
authors.lastname: Bridoux-Henno
authors.forename: Bogdan
authors.initials: B
authors.lastname: Hermeziu
authors.forename: Catherine
authors.initials: C
authors.lastname: Lenaerts
authors.forename: Christian P
authors.initials: CP
authors.lastname: Strassburg
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Jacquemin