
MEFV gene mutations
MEFV gene mutations affect the MEFV gene, which provides instructions for making a protein called pyrin. Pyrin helps regulate inflammation in the body. Mutations in this gene can lead to an abnormal immune response, causing periodic episodes of fever and inflammation, as seen in a condition called Familial Mediterranean Fever (FMF). These mutations are inherited, and their presence increases the risk of recurrent inflammatory attacks. Understanding these genetic changes helps diagnose FMF and guides appropriate treatment to manage symptoms and prevent complications.