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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 ...
Hla-Drb1*11 And Variants Of The Mhc Class Ii Locus Are Strong Risk Factors For Systemic Juvenile Idiopathic Arthritis
(Natl Acad Sciences, 2015)
Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is poorly understood. To determine whether genetic variation within ...