A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".

Abstract

Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder resulting in recurrent fever, polyserositis, and arthralgias. It is caused by mutations in the MEFV (Mediterranean Fever) gene. We report a Lebanese pediatric patient with typical FMF symptoms and unique triple homozygous variations E148Q-P369S-R408Q in the MEFV gene. This is the second-ever reported case with this specific triple homozygous variation.