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PMID: 15973329 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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

The Journal of pediatrics ·Vol. 146 ·No. 6 ·2005-06-00 ·Pages 839-42

Lankisch TO, Strassburg CP, Debray D, Manns MP, Jacquemin E

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.

MeSH Terms

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

Chemicals

APECED protein Autoantibodies Transcription Factors Cytochrome P-450 Enzyme System

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Lankisch Tim O

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

Strassburg Christian P

Debray Dominique

Manns Michael P

Jacquemin Emmanuel

Article Info

Journal

The Journal of pediatrics

Abbr.

J Pediatr

ISSN

0022-3476

DOI

10.1016/j.jpeds.2005.01.050

Published

2005-06-00

Pages

839-42

Language

English

Region

United States

NLM ID

0375410

Subset

External Links

PubMed source DOI: 10.1016/j.jpeds.2005.01.050 View journal details

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

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