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Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease
(Natl Acad Sciences, 2016)
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a ...