Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases

Tim O Lankisch; Christian P Strassburg; Dominique Debray; Michael P Manns; Emmanuel Jacquemin

doi:10.1016/j.jpeds.2005.01.050

Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases

J Pediatr. 2005 Jun;146(6):839-42. doi: 10.1016/j.jpeds.2005.01.050.

Authors

Tim O Lankisch¹, Christian P Strassburg, Dominique Debray, Michael P Manns, Emmanuel Jacquemin

Affiliation

¹ Department of Gastroenterlogy, Hannover Medical School, Hanover, Germany.

PMID: 15973329
DOI: 10.1016/j.jpeds.2005.01.050

Abstract

Autoimmune regulator gene mutations were identified in 3 children with type 2 autoimmune hepatitis and extrahepatic immune diseases, including 1 child with immune hepatitis recurrence after liver transplantation. These findings suggest that autoimmune regulator gene variants might predispose children to systemic autoimmune disease, a recurrence of immune disease, or both.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

AIRE Protein
Adolescent
Adult
Autoantibodies / blood*
Blotting, Western
Child, Preschool
Cytochrome P-450 Enzyme System / immunology*
Exons
Female
Hepatitis, Autoimmune / genetics*
Humans
Infant
Male
Mutation*
Polyendocrinopathies, Autoimmune / immunology*
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Transcription Factors / genetics*

Substances

Autoantibodies
Transcription Factors
Cytochrome P-450 Enzyme System