| Autor: |
Lankisch, Tim O, Mourier, Olivia, Sokal, Etienne M, Habes, Dalila, Lacaille, Florence, Bridoux-Henno, Laure, Hermeziu, Bogdan, Lenaerts, Catherine, Strassburg, Christian P, Jacquemin, Emmanuel |
| Zdroj: |
Journal of Pediatric Gastroenterology & Nutrition; April 2009, Vol. 48 Issue: 4 p498-500, 3p |
| Abstrakt: |
The present report describes AIREgene 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. |
| Databáze: |
Supplemental Index |
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