Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

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

Life Sciences, Immunology, Pathology +15

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 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +9

Use of Canakinumab in the Cryopyrin-Associated Periodic Syndrome

Helen J. Lachmann, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner et al. · New England Journal of Medicine · 2009 · 858 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +11

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 · 743 citations

Life Sciences, Immunology, Internal Medicine +16