Introduction PFAPA syndrome (acronym for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common cause of periodic fever in childhood. It is considered part of the wide family of the autoinflammatory diseases, but a genetic or molecular marker hasn’t been identified yet, therefore, its etiology is still unknown. Diagnosis is essentially based on clinical crite...

Objective Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis or an erysipelaslike skin disorder. The disease may present at any age, more than 80% of patients being symptomatic by the age of 20 yr. Its main long-term complication is amyloid A (AA) amyloidosis, a severe manifestation with poor pro...

Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is...

Introduction FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomati...

Introduction The importance of MEFV gene protein, Pyrin/Marenostrin (P/M) in the inflammatory pathway is well established. P/M is expressed in neutrophils, eosinophils, monocytes, dendritic cells and synovial fibroblasts. There are many MEFV transcripts which are generated by alternative splicing events including deleted exons 2,3,4,5,7 and 8 in several combinations or individually. Some of the...

Introduction Patients with more than one autoinflammatory disorder are rarely reported in the literature [1]. Additionally, rare reports suggest that MEFV mutations might be associated with atypical manifestations for familial Mediterranean fever (FMF), such as isolated recurrent muscle pain in one patient [2] and chronic recurrent multifocal osteomyelitis (CRMO) responsive to colchicine in ano...

A 57-year-old Japanese woman who had been diagnosed as having entero-Behçet's disease nine years earlier was admitted with a persistent high-grade fever. An Mediterranean fever (MEFV) gene analysis revealed the compound heterozygous P369S-R408Q variant. She was treated with colchicine, and her symptoms immediately improved. Prednisolone (PSL) was added to treat the punched-out ulcers in the ter...