Publication: Pyrin-associated autoinflammatory disease with p.Thr577Ala MEFV somatic mutation

We are happy to share this article describing the first dominant somatic mutation of MEFV p.Thr577Ala, responsible for a pyrin-associated autoinflammatory disease. This publication is the result of the work from a group of French autoinflammatory experts, including representatives of the Tenon Hospital (RITA member since 2022): Sophie Gerogin-Lavialle and Alexandre Terré.

Abstract: 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. 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. Colchicine, a pyrin inflammasome inhibitor, is most often effective in preventing attacks and controlling inflammation. Beside this classical presentation, mutation of MEFV have been associated with dominant inflammatory diseases such as pyrin associated auto-inflammatory disease with neutrophilic dermatosis (PAAND).

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