Serum IL 4 and its gene polymorphism (rs79071878) in Egyptian children with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autoinflammatory disorder. It is caused by mutations in the MEFV gene encoding the pyrin protein, which regulates the innate inflammatory response. The aim of the current study was to investigate the relationship between serum Interleukin-4 (IL-4) and its gene polymorphism, namely rs79071878, and FMF occurrence, severity, and response to treatment in Egyptian children harboring the disease. Fifty Egyptian children diagnosed as having FMF were included in this study. They were divided equally into two groups according to disease activity. Forty controls, age- and gender-matched, were also included. Serum IL-4 levels were measured by enzyme-linked immunosorbent assay (ELISA). The IL-4 rs79071878 polymorphism was determined by polymerase chain reaction (PCR) analysis. There was no significant difference in genotype distribution of IL-4 gene rs79071878 between patients and controls (p = 0.286) and had no correlation with FMF severity or response to colchicine therapy. Serum IL-4 level had no significant difference between children with FMF attack and those in attack-free period compared to controls (p = 0. 794) and had no correlation with any of demographic, or clinical characteristics, disease severity, or response to colchicine therapy. Serum IL-4 level and its gene polymorphism were not found to have any increase risk of FMF occurrence, disease severity, or response to treatment in the Egyptian children. Further studies are needed to verify these results.