Genotype-phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients.

doi:10.1007/s10067-021-06006-w

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Genotype-phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients.

Clinical rheumatology - 1 May 2022

Beshlawy Amal El, Zekri Abd El Rahman, Ramadan Manal S, Selim Yasmeen M M, Abdel-Salam Amina, Hegazy Mohamed Tharwat, Ragab Lamis, Gaggiano Carla, Cantarini Luca, Ragab Gaafar

Abstract excerpt

INTRODUCTION: Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disease, caused by recessively inherited MEFV gene mutations. The most frequent MEFV mutations differ in penetrance and disease severity. We investigated the genotype-phenotype associations of the three most frequent MEFV gene mutations (M680I, M694V, and V726A) in Egyptian FMF children, regarding clinical features,...

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