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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 ...
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 ...
Classification Criteria For Autoinflammatory Recurrent Fevers
(2019)
Background Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), ...
Time To Focus On Outcome Assessment Tools For Childhood Vasculitis
(2011)
Childhood systemic vasculitides are a group of rare diseases with multi-organ involvement and potentially devastating consequences. After establishment of new classification criteria (Ankara consensus conference in 2008), ...
