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...

Introduction The familial Mediterranean fever (FMF, OMIM 249100) is an autosomal recessive auto-inflammatory disease primarily occuring in Armenian, Turkish, Jewish and Arabic populations. The first clinical symptoms of FMF usually appear in childhood. The chronic relapsing inflammation of the serous membranes leads to febrile attacks often associated with abdominal, joint and/or chest pains. T...

Introduction Familial Mediterranean Fever (FMF) is caused by mutations in the MEFV (Mediterranean FeVer) gene, which encodes pyrin. Phenotypic heterogeneity is very common in FMF patients and may partly rely on genetic heterogeneity. However, many cases having weak phenotypic-genotypic correlation, different clinical findings and therapeutic approaches with the same genotype show that FMF is no...

background: familial mediterranean fever (fmf) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. methods: to evaluate clinical symptoms and common genetic mutations in southwestern iranian patients with fmf, 20 unrelated patients were enrolled in this study based on clinical criteria. a panel of 12 common mefv ...

objective(s):familial mediterranean fever (fmf) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. fmf affects mainly mediterranean populations and is caused by mutations in the familial mediterranean fever (mefv) gene. the aim of this study was to identify the frequency and distribution of mefv mutations in irani...

BACKGROUND/AIMS Three missense mutations clustered on the carboxyl-terminal portion of the MEFV gene (M680I, M694V, and V726A) have been observed in over 80% of affected alleles in several ethnic groups of familial Mediterranean fever patients. Several immunologic abnormalities were found both in cellular and humoral components in Mediterranean fever patients. Those observations have pointed th...

OBJECTIVES We investigated whether polymorphisms (SNPs) in the promoter region of TNFA, or in the autoinflammatory TNFRSF1A and MEFV genes, concur with HLA-B27 in enhancing the risk of Spondyloarthritis (SpA) and/or in predicting the response to anti-TNFα treatment. METHODS 373 controls and 137 SpA (82 with Psoriatic Arthritis-PsA and 55 with Ankylosing Spondylitis- AS; 98/137 under TNFα inhi...