Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases |
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| Authors: | Lankisch Tim O Strassburg Christian P Debray Dominique Manns Michael P Jacquemin Emmanuel |
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| Affiliation: | Department of Gastroenterlogy, Hannover Medical School, Hanover, Germany. |
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| 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. |
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| Keywords: | AIH, Autoimmune hepatitis AIRE, Autoimmune regulator gene APECED, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy CYP, Cytochrome P FTCD, Formiminotransferase cyclodeaminase LC-1, Anti-liver cytosolic LKM-1, Anti liver-kidney microsomal type 1 LM, Liver membrane OLT, Orthotopic liver transplantation PCR, Polymerase chain reaction |
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