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Article

An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K.

Rheumatology (Oxford, England) - 1 Feb 2011

Murphy Grainne, Daly Mary, O'Sullivan Miriam, Stack John, Rowczenio Dorota, Lachmann Helen, Shanahan Fergus, Harney Sinead, Hawkins Philip, Molloy Michael

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Share to Antirheumatic Agents
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20819795
DOI: 10.1093/rheumatology/keq280

Genes

NLRP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K.PMID 20819795Read ↗

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Muckle-Wells syndrome in Chinese patients: a single center case series.Semantic proximity Read ↗

Analysis on misdiagnosis of a case of novel variant of NLRP12.Semantic proximity Read ↗

NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.Semantic proximity Read ↗

PW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patientsSemantic proximity Read ↗

Cryopyrin-associated periodic fever syndrome presenting with fevers and serositis related to a novel NLRP3 gene mutation.Semantic proximity Read ↗

Low-level NLRP3 somatic mosaicism in adult-onset cryopyrin-associated periodic syndrome misdiagnosed as chronic urticaria.Semantic proximity Read ↗

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

Significance of I313V mutation of NLPR3 gene in two pediatric patientsSemantic proximity Read ↗

Identification of a Variant in NLRP3 Gene in a Patient with Muckle-Wells Syndrome: A Case ReportSemantic proximity Read ↗

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

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