BACKGROUND Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF), and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that can be associated with renal amyloidosis of the AA type. In this study we have characterized FMF and...

OBJECTIVE A high prevalence of Behçet's disease (BD) among familial Mediterranean fever (FMF) patients has been described recently and a weak association of BD and certain MEFV gene mutations, originally linked to FMF, has been reported in an ethnically mixed population from France. We further investigated the presence of MEFV mutations in BD patients from Turkey, a country with a high prevalen...

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...

OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent febrile attacks accompanied by serosal and synovial membrane inflammation. FMF is caused by mutations in the MEFV gene and are found usually among Mediterranean populations, Armenians, Turks, Arabs and Jews. The aim of this study was to determine the frequency of MEFV gene mutations among ...

Purpose: Mutations in the Mediterranean FeVer (MEFV) gene, which causes familial fever (FMF), may also cause emergence of other specific rheumatic diseases. This study aims to determine frequency rheumatologic diseases paediatric FMF patients, evaluate whether there are clinical and genetic differences between those with without concomitant diseases, compare data previous studies.
 Materia...

Methods We collected clinical and laboratory data from periodic fever patients followed at our center from the beginning of 2006 to the end of 2012. Results of genetic testing for MEFV gene mutations were also collected. Genetic testing was performed in Genetic laboratory of University Children’s Hospital Ljubljana. All 10 exons and exon/ intron regions of MEFV gene were directly sequenced with...

Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant am...

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...

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 ...