Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulte...

BACKGROUND Familial Mediterranean fever (FMF) is a recessively inherited disease with a variety of clinical presentations. The disease is associated with mutations in the FMF gene (MEFV), which encodes for the pyrin protein. The role of the E148Q pyrin mutation in the FMF phenotype remains inconclusive, and some authors even view it as a disease-insignificant polymorphism. The calculated change...

Purpose: Familial Mediterranean Fever (FMF) is a hereditary auto inflammatory disease (MIM#249100). The most common symptoms are high fever, abdominal pain and arthralgia. FMF the result of variations in MEditerraneanFeVer (MEFV) gene, which located on chromosome 16p13.3, consists 10 exons encodes pyrin (marenostrin) protein. frequency MEFV gene variants that cause varies according to ethnic gr...

Results The Q703K mutation was found in the 35 screened patients (pediatric 17 vs adult 18, with the mean age was 23,7 years, range 3-64). The mean age at onset was 21,5 years (range 0,5-57). Thirty patients were heterozygous for theQ703K mutation only. Two pts displayed other mutations of NLRP3 gene (M604I in one CINCA and D303N and V198M in a MWS). Three patients display a monoallelic variant...

BACKGROUND The pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TR...

Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting bouts of fever and serositis and caused by altered pyrin due to mutated MEFV gene. FMF is common in the Mediterranean Basin populations, although with varying genetic patterns. The spectrum and clinical significance of MEFV alterations in Greece has yet not been elucidated. The aim of this study was to ana...

Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in <em>MEFV</em>. These can affect the dysregulation of inflammatory processes human body and lead to fever pain chest abdomen. Many known missense <em>MEFV</em> are linked FMF disease. Mutations most cases located on short arm chromosome 16 impair function pyri...