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...

OBJECTIVE The gene causing familial Mediterranean fever (FMF)-an autosomal recessive disease characterized by recurrent short episodes of fever associated most commonly with peritonitis, pleuritis, and arthritis-has recently been found and several mutations identified. The most severe complication of the disease is amyloidosis, which can lead to renal failure. The aim of this study was to inves...

Objectives Adult onset-Still’s disease (AOSD) and gout are considered as auto-inflammatory disorders. Both diseases run recurrent episodic course and respond to anti-IL 1 treatment. Additionally, increased frequency of MEFV variations in other inflammatory diseases other than FMF such as Behçet’s disease, ulcerative colitis and rheumatoid arthritis and raises the possibility that MEFV gene may ...

High frequencies of inherited variants in the Mediterranean fever (MEFV) gene have been identified in patients with multiple myeloma (MM). The sample size of the present pilot study was small, therefore, the actual frequency of inherited variants in the MEFV gene could be investigated in patients with MM. Twenty-eight patients with MM and 65 healthy controls were included in the study. Six hete...

We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease. Genetic analyses revealed that she inherited a TNFRSF1A R92Q mutation from her mother and a pyrin E230K mutation from her father. To our knowledge, this is the first report of a patient with severe childhood multiple sclerosis and mutati...

Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease affecting mainly ethnic groups of basin. It has been reported that it can coexist with various systemic inflammatory diseases. This study aimed to obtain information on rheumatic diseases accompany FMF and evaluate relation between such diseases.
 Methods: Eighty-four patients diagnosed hav...