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Article

New Diseases Linked to MEFV Variants or Pyrinopathies.

The journal of allergy and clinical immunology. In practice - 1 Mar 2025

Mertz Philippe, Boursier Guilaine, Hentgen Véronique, Georgin-Lavialle Sophie

Abstract excerpt

Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response. Since the discovery of FMF, many other pathogenic variants of MEFV have...

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Identifiers

PMID: 39725312
DOI: 10.1016/j.jaip.2024.12.022

Genes

MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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