نتایج جستجو برای: mefv mutation
تعداد نتایج: 292011 فیلتر نتایج به سال:
objective(s):familial mediterranean fever (fmf), an inherited autosomal recessive disorder, is frequently present among individuals of mediterranean origin. differences in the clinical manifestations of fmf between different ethnic groups have been documented. the aim of the present study was to determine the most common characteristics of fmf and the relationship between clinical findings and ...
Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied by synovial, serosal and/or cutaneous inflammation. Liver involvement has been described mainly in patients with paired FMF gene mutations, i.e. involving both alleles, and rarely in patients heterozygous for FMF mutations. These patients may present with acute or ...
Results Among the 243 patients, we detected a total of 433 pyrin mutations and 22 different sequence variants, including one new mutation (p.Gly488Asp). The four most frequent alterations were p.Met694Val (55%, n=238), p.Met680lle (12%, n=52), p.Val726Ala (10%, n=44) and p.Glu148Gln (8%, n=34). Ethnic origin could be determined in 224 cases; the prevailing ancestry was Turkish (83%, n=185), 8% ...
Introduction Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells. Familial Mediterranean fever (FMF) is the archetypal hereditary periodic fever syndrome and autoinflammatory disorder. It is characterized by recurrent selflimiting episodes of fever and painful polyserositis....
OBJECTIVES Behçet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was...
Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by recurrent, self-limited attacks of fever and serositis and by infiltration of affected tissues by large numbers of neutrophils. A candidate gene for FMF was identified by positional cloning and named "MEFV." The corresponding protein was named "pyrin." To elucidate the currently unknown function of pyrin, we...
Background. In patients with bronchial asthma, spirometry could identify the airflow limitation of small airways by evaluating the concave shape of the maximal expiratory flow-volume (MEFV) curve. As the concave shape of the MEFV curve is not well documented, we reevaluated the importance of this curve in adult asthmatic patients. Methods. We evaluated spirometric parameters, the MEFV curve, an...
Familial Mediterranean fever (FMF) is an autosomal recessive inflammatory disorder caused by mutations in the MEFV gene that encodes the pyrin protein. The disease is relatively common among people originating from the Mediterranean areas. The aim of this study was to determine the common MEFV gene mutations in 270 Palestinian patients diagnosed with FMF. The patients were screened for four com...
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