Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene

NALP3 Forms an IL-1β-Processing Inflammasome with Increased Activity in Muckle-Wells Autoinflammatory Disorder

Laetitia Agostini, Fabio Martinon, Kimberly Burns et al. · Immunity · 2004 · 1.7K citations · Full text

Inflammation, Muckle-wells Autoinflammatory Disorder, Il-1β-processing Inflammasome +12

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

Hal M. Hoffman, James L. Mueller, David H. Broide et al. · Nature Genetics · 2001 · 1.6K citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +9

Spectrum of clinical features in Muckle‐Wells syndrome and response to anakinra

Philip N. Hawkins, Helen J. Lachmann, Ebun Aganna et al. · Arthritis & Rheumatism · 2004 · 742 citations

Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes

Jérôme Feldmann, Anne‐Marie Prieur, Pierre Quartier et al. · The American Journal of Human Genetics · 2002 · 738 citations · Full text

Developmental Anomaly, Rare Diseases, Polymorphonuclear Cells +12

De novo <i>CIAS1</i> mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal‐onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin‐associated autoinflammatory diseases

Ivona Aksentijevich, Miroslawa Nowak, Mustapha Mallah et al. · Arthritis & Rheumatism · 2002 · 698 citations · Full text