Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.

doi:10.1093/rheumatology/kex373

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Article

Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.

Rheumatology (Oxford, England) - 1 Jan 2018

Jamilloux Yvan, Lefeuvre Lucie, Magnotti Flora, Martin Amandine, Benezech Sarah, Allatif Omran, Penel-Page Mathilde, Hentgen Véronique, Sève Pascal, Gerfaud-Valentin Mathieu, Duquesne Agnès, Desjonquères Marine, Laurent Audrey, Rémy-Piccolo Vanessa, Cimaz Rolando, Cantarini Luca, Bourdonnay Emilie, Walzer Thierry, Py Bénédicte F, Belot Alexandre, Henry Thomas

Abstract excerpt

Objectives: FMF is the most frequent autoinflammatory disease and is associated in most patients with bi-allelic MEFV mutations. MEFV encodes Pyrin, an inflammasome sensor activated following RhoGTPase inhibition. The functional consequences of MEFV mutations on the ability of Pyrin variants to act as inflammasome sensors are largely unknown. The aim of this study was to assess whether MEFV mutations affect the...

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Identifiers

PMID: 29040788
DOI: 10.1093/rheumatology/kex373

Genes

MEFV
NLRP3
NLRC4

Provenance

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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Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.PMID 29040788Read ↗

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