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

Lankisch, Tim O;Mourier, Olivia;Sokal, Etienne;Habes, Dalila;Jacquemin, Emmanuel;et.al.
(2009) Journal of Pediatric Gastroenterology and Nutrition — Vol. 48, n° 4, p. 498-500 (2009)

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Authors
  • Lankisch, Tim O
    Author
  • Mourier, Olivia
    Author
  • Sokal, EtienneUCLouvain
    Author
  • Habes, Dalila
    Author
  • Jacquemin, Emmanuel
    Author
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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.
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Lankisch, T. O., Mourier, O., Sokal, E., Habes, D., Lacaille, F., Bridoux-Henno, L., Hermeziu, B., Lenaerts, C., Strassburg, C. P., & Jacquemin, E. (2009). AIRE gene analysis in children with autoimmune hepatitis type I or II. Journal of Pediatric Gastroenterology and Nutrition, 48(4), 498-500. https://doi.org/10.1097/MPG.0b013e31818550de (Original work published 2009)