Familial Mediterranean fever (FMF)
Familial Mediterranean fever is the most common monogenetic autoinflammatory syndrome
• Autoinflammatory syndrome caused by autosomal recessive mutations in the MEFV locus (encodes the pyrin protein; on chromosome 16p. Over 80 mutations have been described.
• MEFV mutations are most likely gain-of-function and ultimately lead to increased IL-1β activation and increased activation of the innate immune system.
• Of note, 10% to 20% of patients with a classic FMF phenotype do not carry MEFV mutations.