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Article

E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?

European journal of pediatrics - 1 Oct 2024

Orouk Awaad Elham, Khoury Lana, van Straalen Joeri W, Miller-Barmak Adi, Gazitt Tal, Haddad-Haloun Jumana, Brik Riva, Hamad Saied Mohamad

Abstract excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease, linked to mutations in the MEFV gene. The p.E148Q variant, found on exon 2, has an uncertain role in FMF, with debates on whether it is a benign polymorphism or a pathogenic mutation. This study aimed to assess the clinical characteristics and severity of FMF in patients homozygous for the p.E148Q variant and to evaluate the...

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Child
Child, Preschool
Colchicine
Familial Mediterranean Fever
Infant

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PMID: 39143349
DOI: 10.1007/s00431-024-05690-5
PMCID: PMC11413036

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