Mutations in MEFV, a gene encoding a protein (marenostrin/pyrin) of unknown function, are associated with familial Mediterranean fever, a genetic condition characterized by febrile episodes of serosal inflammation. Based on its primary structure, this 781 residue protein is thought to function as a nuclear effector molecule. However, recent transient expression studies indicated a perinuclear c...

Our aim was to construct a Familial Mediterranean Fever (FMF) cumulative database and to propose a MEFV based phylogenetic tree. Data were collected from published studies. A meta-analysis based on 16,756 chromosomes from FMF patients and normal individuals from 14 affected populations was performed. Arlequin 2.0 and Phylip 3.2 software were used for population genetics analysis and phylogeneti...

BACKGROUND A biphasic-plateau pattern in the maximal expiratory flow-volume (MEFV) curve has been described after single-lung transplantation (SLT) in patients with chronic airways obstruction (CAO). It has been theorized that this pattern is either related to stenosis at the anastomotic or subanastomotic site, or the sum of the airflow contribution from the native lung with airways obstruction...

BACKGROUND The Mediterranean fever (MEFV) gene codes for protein pyrin, one of the regulators of inflammasome activity in innate immune cells. Mutations in this gene are considered the primary cause of Familial Mediterranean fever, but are also found in other monogenic and multifactorial autoinflammatory diseases. The aim of the study was to determine if healthy carriers of MEFV gene mutations ...

OBJECTIVES The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes. METHODS Genotypes of HLA...

OBJECTIVES To analyse the most common MEFV (Mediterranean fever gene) mutations and polymorphisms in an elderly population free of chronic inflammatory disease (n=164), and explore possible associations between hsCRP (high sensitive C-reactive protein) and RF (rheumatoid factor) levels with MEFV mutations and polymorphisms. METHODS An elderly group free of chronic inflammatory disease was cho...

OBJECTIVE Familiar Mediterranean Fever (FMF) is common among Mediterranean populations, while other populations are rarely affected. The aim of this study was to assess the involvement of MEFV gene mutations among Japanese rheumatoid arthritis patients with or without amyloid A (AA) amyloidosis. METHODS The frequency of the MEFV mutations, which were identified in Japanese FMF patients, was d...

SIR, Familial Mediterranean fever (FMF) is a genetic disease with autosomal recessive transmission, occuring mainly in Middle-Eastern and eastern Mediterranean populations. Haplotype and mutation analysis has helped us trace the origins of this disease to the Fertile Crescent, located in the eastern Mediterranean [1]. Another rheumatological disease that is common in this area is Behçet’s disea...

familial mediterranean fever (fmf) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the mediterranean sea. it is characterized by recurrent episodes of fever and polyserositis and rash. recently, mefv gene analysis determines the definitive diagnosis of fmf. in this study, we analyzed 12 mefv gene mutations in more than 200 fmf patients, pr...

background: systemic-onset juvenile idiopathic arthritis (sojia) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. despite, the main genetic factors that may play a role in sojia have not yet been identified. high level of interleukin-1beta in the blood of sojia patients has been reported. the production and sec...