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