The unsolved mystery of MEFV variants variable expressivity in Familial Mediterranean Fever (2022)

Abstract

PMID: 35809153

This is a commentary, where the authors, and point out that there are actors that influence the clinical expression and severity of FMF including the number and type of MEFV mutation, environmental triggers, and response to treatment. They suggest a multidisciplinary approach involving genetics, immunology, rheumatology, and internal medicine to improve the diagnosis and treatment of FMF.

references

Alessandro Stella
Piero Portincasa

OUR PROJECT This website is the testimony of our ambitious research project on FMF, with the aim of making the disease known and demonstrating our experimental approach to develop an effective therapy.

Progetto di ricerca ammesso al finanziamento a seguito dell’Avviso di cui alla deliberazione dell’Ufficio di Presidenza della Regione Puglia n. 246 del 10 ottobre 2019:

“Febbre Mediterranea Familiare (FMF) in Puglia: studio del background genotipico, del microbiota intestinale e presentazione clinica. Outcome diagnosticoterapeutico e confronto con etnie differenti. (FEVER APULIAE)”