Mutations in the MEditerranean FeVer (MEFV) gene are responsible for familial Mediterranean fever (FMF), a recessively inherited auto-inflammatory disease. Cases of dominant inheritance and phenotype-genotype heterogeneity have been reported; however, the underlying molecular mechanism is not currently understood. The FMF protein named pyrin or marenostrin (P/M) is thought to be involved in reg...

Results MEFV analysis was available for 44/69 patients, 7/8 with systemic onset(So) JIA and 37/61 with other types of JIA. MEFV mutations were found in 27/44 patients tested (61%). 3/7 patients (43%) with SoJIA had MEFV mutations, all heterozygous. Of the 24/37 patients (65%) with other forms of JIA had confirmed MEFV mutations and 12/24 had typical episodes of FMF. With colchicine in addition ...

Some genes have an unproven role in the pathogenesis of Rheumatoid arthritis (RA). One of these suspected genes is the Mediterranean fever (MEFV) gene. MEFV is responsible for familial Mediterranean fever (FMF). Currently, more than 100 FMF-associated mutations of the MEFV gene have been identified. With most located on exon 10, five of these: E148Q, M680I, M694V, M694I, and V726A account for m...

Introduction Autoinflammatory disorders are a group of diseases whose nosology and etiology are only partly understood. Among Mendelian forms, familial Mediterranean fever (FMF), due to mutations in MEFV, is one of the most frequent. Most MEFV mutations are located in exon 10 and are usually associated with an autosomal recessive mode of inheritance. MEFV encodes pyrin, which interacts with PST...

Methods 113 caucasian patients carrying MEFV mutations (46 with mutations in two alleles, 67 heterozygous) and 205 genetically negative patients for MEFV, TNFSF1A and MEFV (70% with a PFAPA phenotype) were analyzed. The following groups were considerd: patients with: i) 2 high penetrance mutations (M694V, M694I, M680I), ii) 1 high, 1 low penetrance mutation, iii) 2 low penetrance mutations, iv)...

OBJECTIVES Familial mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent and self-limiting fever, peritonitis, arthritis, synovitis, pleuritis, carditis, and erysipelas-like lesions. The aim of this study was to investigate the frequency of the MEFV gene mutation in patients who admitted to hospital with preliminary diagnosis FMF and who had undergone a prior a...

Introduction Familial Mediterranean fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis common in eastern Mediterranean population. Over 160 mutations have been identified in MEFV gene responsible for FMF. The most common mutations in MEFV gene are E148Q, M694I, M694V, V726A and M680I. The distribution pattern of MEFV mutation along the Medite...

BACKGROUND Pyrin is a newly recognised intracellular regulator of inflammation, and mutations in MEFV, the gene encoding pyrin, are the cause of familial Mediterranean fever. OBJECTIVE To determine if known mutations of MEFV are associated with rheumatoid arthritis (RA) morbidity or can modify RA severity. METHODS The frequency of the three most common MEFV mutations: M694V, V726A, and E148...

BACKGROUND Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10-20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so called "FMF without MEFV mutations". In this study we clinically and demographically characterize this ...

The relationship between the MEFV gene (MEFV), which is mutated in familial Mediterranean fever (FMF) disease and located on 16p13.3, and clonal myeloid disorders has been a subject of concern, and there have been studies undertaken in an effort to explain this situation1-3. In these studies, it was speculated that MEFV is a cancer susceptibility gene because the protein encoded by this gene, p...