Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period

Abstract Background Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi...

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Bibliographic Details

Published in:	Pediatric Rheumatology Online Journal
Main Authors:	Alba Gabaldon-Albero, Carla Martin-Grau, Miguel Marti-Masanet, Alejandro Lopez-Jimenez, Roberto Llorens, Beatriz Beseler-Soto, Sergio Martin-Zamora, Berta Lopez, Inmaculada Calvo, Sara Hernandez-Muela, Monica Rosello, Carmen Orellana, Francisco Martinez
Format:	Article
Language:	English
Published:	BMC 2024-12-01
Subjects:	Aicardi-goutières syndrome Type 1 interferonopathy ADAR gene Ruxolitinib Infantile encephalopathy
Online Access:	https://doi.org/10.1186/s12969-024-01036-5