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Article

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

Arthritis research & therapy - 1 Jan 2011

Kuemmerle-Deschner Jasmin B, Lohse Peter, Koetter Ina, Dannecker Guenther E, Reess Fabian, Ummenhofer Katharina, Koch Silvia, Tzaribachev Nikolay, Bialkowski Anja, Benseler Susanne M

Abstract excerpt

INTRODUCTION: Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, sensorineural deafness and potentially life-threatening amyloidosis. The NLRP3/CIAS1 E311K mutation caused a heterogeneous phenotype of MWS in a large family. This study analyzes the clinical spectrum, patterns of inflammatory parameters and reports on response to treatment....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22146561
DOI: 10.1186/ar3526
PMCID: PMC3334646

Genes

NLRP3
TNF
CRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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