Functional stratification of MEFV variants by flow cytometric assessment of pyrin inflammasome activation

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Functional stratification of MEFV variants by flow cytometric assessment of pyrin inflammasome activationTo the Editor, Familial Mediterranean Fever (FMF) is the most prevalent monogenic autoinflammatory disease (AID) worldwide and represents the prototype of innate immune-mediated inflammatory disorders.1 The disease is characterized by recurring, self-limited episodes of fever and serositis that may lead to secondary AA amyloidosis, driven by sustained elevation of serum amyloid A (SAA).Colchicine remains the cornerstone of FMF treatment, although 20%-40% of patients require IL-1-targeted therapies for incomplete disease control. 2 FMF is caused by pathogenic variants in the MEFV gene, encoding the inflammasome sensor pyrin, which regulates Ras homolog family member A (RhoA) GTPase activity.3,4 Under homeostatic conditions, pyrin is phosphorylated by protein kinase N 1/2 and sequestered by 14-3-3 chaperone proteins, preventing inflammasome activation.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.