Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases.
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.
Department of Gastroenterlogy, Hannover Medical School, Hanover, Germany.
Tim O
TO
Lankisch
Christian P
CP
Strassburg
Dominique
D
Debray
Michael P
MP
Manns
Emmanuel
E
Jacquemin
D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood*; D015153:Blotting, Western; D002675:Child, Preschool; D003577:Cytochrome P-450 Enzyme System / Q000276:immunology*; D005091:Exons; D005260:Female; D019693:Hepatitis, Autoimmune / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000276:immunology*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
D001323:Autoantibodies; D003577:Cytochrome P-450 Enzyme System; D014157:Transcription Factors; D000096927:AIRE Protein