Now showing items 1-10 of 124
IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis
Objective. To determine whether systemic juvenile idiopathic arthritis (JIA) susceptibility loci that were identified by candidate gene studies demonstrate association with systemic JIA in the largest study population ...
Clinical Features Of Childhood Granulomatosis With Polyangiitis (Wegener’S Granulomatosis)
Background Granulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease ...
2012 Revised International Chapel Hill Consensus Conference Nomenclature Of Vasculitides
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 ...