Published: 17 November 2023
Author(s): Alexandre Terré, Flora Magnotti, Jean-Maxime Piot, Guilaine Boursier, Sophie Georgin-Lavialle
Issue: March 2024
Section: Letter to the Editor

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. FMF is classically a recessive disease due to mutations in exon 10 of the MEFV gene and affects patients originating from the Mediterranean region. The MEFV gene encode for the protein pyrin, that is involved in the activation of the pyrin inflammasome [1]. The main clinical signs are recurrent inflammatory flares associating fever, abdominal pain, arthralgia and ankle pseudo erysipelas. The most frequent and severe mutation is the p.Met694Val.


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