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Article

Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.

Arthritis research & therapy - 19 Feb 2013

Rowczenio Dorota M, Trojer Hadija, Russell Tonia, Baginska Anna, Lane Thirusha, Stewart Nicola M, Gillmore Julian D, Hawkins Philip N, Woo Patricia, Mikoluc Bozena, Lachmann Helen J

Abstract excerpt

INTRODUCTION: Mutations in the NLRP3 gene are associated with the dominantly inherited cryopyrin-associated periodic syndrome (CAPS). The significance of the V198M variant is unclear; it has been reported in association with various CAPS phenotypes and as a variant of uncertain consequence. The aim of this study was to characterize the clinical phenotypes and treatments in individuals with V198M assessed in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23421920
DOI: 10.1186/ar4171
PMCID: PMC3672677

Genes

CAPS
NLRP3
CRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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