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IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis
(Wiley, 2018)
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)
(2014)
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
(Wiley-Blackwell, 2013)
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 ...
Comparison Of The Efficacy Of Once- And Twice-Daily Colchicine Dosage In Pediatric Patients With Familial Mediterranean Fever – A Randomized Controlled Noninferiority Trial
(2016)
Background In this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF). Methods In ...
Early- Onset Stroke and Vasculopathy Associated With Mutations in Ada2
(Massachusetts Medical Soc, 2014)
BackgroundWe observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We ...
Fmf: An Update
(2014)
Guidelines For The Genetic Diagnosis Of Hereditary Recurrent Fevers
(2012)
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the ...