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Article

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

Annals of the rheumatic diseases - 1 Nov 2015

Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann H J, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf S M, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M

Abstract excerpt

OBJECTIVE: To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers. METHODS: A web-based registry retrospectively collected data on patients with CAPS. Experts in the disease independently validated all cases. Patients carrying NLRP3...

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Source

Identifiers

PMID: 25038238
DOI: 10.1136/annrheumdis-2013-204991

Genes

NLRP3
CAPS

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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