ImmunoDeficiency Resource (IDR)

Defects in MEFV are the cause of familial mediterranean fever. Familial mediterranean fever is an autosomal recessive inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by amyloidosis, which leads to renal failure. Familial mediterranean fever primarily affects ethnic groups living around the mediterranean basin north-african jews, armenians, arabs and turks. Defects in MEFV are associated with reduced pyrin expression.