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Article

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

Arthritis and rheumatism - 1 Feb 2004

Hawkins Philip N, Lachmann Helen J, Aganna Ebun, McDermott Michael F

Abstract excerpt

OBJECTIVE: Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with the autoinflammatory diseases Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset multisystem inflammatory disease (NOMID), which is also known as chronic infantile neurologic, cutaneous, articular (CINCA) syndrome. Molecular studies suggest that NALP3 is involved in the processing of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 14872505
DOI: 10.1002/art.20033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra.PMID 14872505Read ↗

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Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations.Semantic proximity Read ↗

Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.Semantic proximity Read ↗

New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.Semantic proximity Read ↗

A cryopyrin-associated periodic syndrome with joint destruction.Semantic proximity Read ↗

CAPS--pathogenesis, presentation and treatment of an autoinflammatory disease.Semantic proximity Read ↗

De novo CIAS1 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.Semantic proximity Read ↗

Cryopyrin-associated periodic syndromes and autoinflammation.Semantic proximity Read ↗

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.Semantic proximity Read ↗

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.Semantic proximity Read ↗

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.Semantic proximity Read ↗

"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies.Semantic proximity Read ↗

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