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

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Lankisch, Tim O Mourier, Olivia Sokal, Etienne [UCL] Habes, Dalila Lacaille, Florence Jacquemin, Emmanuel

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.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2009
Journal information "Journal of Pediatric Gastroenterology and Nutrition" - Vol. 48, no. 4, p. 498-500 (2009)
Peer reviewed yes
Publisher Lippincott Williams & Wilkins (Philadelphia)
issn 0277-2116
e-issn 1536-4801
Publication status Publié
Affiliations UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie
UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
UCL - (SLuc) Centre de pathologie anorectale de l'enfant
UCL - (SLuc) Centre de thérapie tissulaire et cellulaire
MESH Subject Adolescent ; Child ; Child, Preschool ; Exons ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Hepatitis, Autoimmune - genetics ; Heterozygote ; Humans ; Point Mutation ; Polymorphism, Genetic ; Sequence Analysis, DNA ; Transcription Factors - genetics
Keywords AIRE gene ; Autoimmune hepatitis ; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
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Bibliographic reference Lankisch, Tim O ; Mourier, Olivia ; Sokal, Etienne ; Habes, Dalila ; Lacaille, Florence ; et. al. AIRE gene analysis in children with autoimmune hepatitis type I or II.. In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 48, no. 4, p. 498-500 (2009)
Permanent URL http://hdl.handle.net/2078.1/25691