Monitoring the activation of immune response in familial Mediterranean Fever among Egyptian patients

Abstract

FMF is an autosomal recessive hereditary disease and occurs as a result of point mutations (Single substitutions) in the Mediterranean Fever (MEFV) gene on the short arm of chromosome 16. This gene encodes a protein called pyrin, which is essentially responsible for the regulation of apoptosis, inflammation, and cytokines, and is mainly expressed in neutrophils, eosinophils, dendritic cells, and fibroblasts. It is presumed that the mutated pyrin molecule is theoretically not able to suppress, and thus the inflammatory response develops. To date, more than 310 MEFV sequence variants have been reported. Most are located in exon 10, including the most common M694V, V726A, M680I and M694I mutations. The wide clinical variability in FMF is partly explained by genetic heterogeneity. A cross-sectional study on forty patients who were diagnosed primarily on clinical basis to have FMF then to be genetically tested for the most common 12 mutations in the MEFV gene in the Genetic Research Unit, Ain Shams University(GRU-ASUH). They were 21 male and 19 female with an age ranging from 3 years to 25 years, their median age was 13.0 years.