Hepatic Involvement in Aicardi-Goutières Syndrome.

Aicardi-Goutières syndrome (AGS) is a monogenic type-I interferonopathy that results in neurologic injury. The systemic impact of sustained interferon activation is less well characterized. Liver inflammation is known to be associated with the neonatal form of AGS, but the incidence of AGS-related hepatitis across lifespan is unknown.We compared natural history data including liver enzyme levels with markers of inflammation, (liver-specific autoantibodies and interferon signaling gene expression[ISG] scores). Liver enzymes were classified as normal or elevated by the fold increase over the upper limit of normal (ULN). The highest increases were designated as hepatitis, defined as aspartate-aminotransferase or alanine-aminotransferase threefold ULN, or gamma-glutamyl transferase 2.5-fold ULN. A larger cohort was used to further characterize the longitudinal incidence of liver abnormalities and the association with age and genotype.Across the AGS cohort (

Informations de copyright

Thieme. All rights reserved.

Déclaration de conflit d'intérêts

Dr. Gavazzi reports grants from NINDS, 1 U01 NS106845-01A1, during the conduct of the study;Dr. Adang reports grants from NINDS, 1 U01 NS106845-01A1, during the conduct of the study;Dr. Vanderver reports grants from NINDS, 1 U01 NS106845-01A1, during the conduct of the study; nonfinancial support from Gilead, grants from Eli Lilly, nonfinancial support from Illumina, grants from Takeda, grants from Homology, grants from Biogen, outside the submitted work;Dr. Shults reports grants from NINDS, 1 U01 NS106845-01A1, during the conduct of the study;All other authors reported no conflict of interest.