Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Abstract
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of individuals with pathogenic heterozygous mutations in IFIH1. We identified 74...
Paper Details
Title
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Published Date
Jan 14, 2020
Journal
Volume
41
Issue
4
Pages
837 - 849
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