نتایج جستجو برای: mefv gene mutations
تعداد نتایج: 1225908 فیلتر نتایج به سال:
The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profi...
Introduction Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to propose that heterozygosity could be causal; however, this might often be coincidental due to the very high rate of ...
Comment on: Familial Mediterranean fever caused by homozygous E148Q mutation complicated by Budd Chiari syndrome and polyarteritis nodosa SIR, We read with interest the letter by Standing et al. [1] on a case of FMF complicated by PAN and Budd Chiarri syndrome (BCS). This case deserves special interest as the authors claim a pathophysiological association of FMF not only with PAN but also with ...
BACKGROUND AND AIMS The familial Mediterranean fever (FMF) gene (MEFV) encodes pyrin, a major regulator of the inflammasome platform controlling caspase-1 activation and IL-1beta processing. Pyrin has been shown to interact with the gene product of NLRP3, NALP3/cryopyrin, also an important active member of the inflammasome. The NLRP3 region was recently reported to be associated with Crohn's di...
Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on chromosome 16. It is the most frequent periodic febrile syndrome among the autoinflammatory syndromes. Clinically, FMF can be distinguished into three phenotypes: type 1, which...
Case report A 23-year-old female was diagnosed for FMF in 2002 after a 3-year course of recurrent atypical attacks. Administration of colchicine 1mg was started and symptoms improved. In 2005 she developed fever and epilepsy. CT-scans demonstrated splenic and cerebral lesions of uncertain etiology. Autoantibodies tests were negative. Infectious diseases were ruled out and therapy with steroids ...
Familial Mediterranean fever is an autosomal recessive autoinflammatory disorder mainly affecting Mediterranean populations, which is associated with mutations of the MEFV gene that encodes pyrin. Functional studies suggest that pyrin is implicated in the maturation and secretion of interleukin-1 (IL-1). The IL-1 receptor antagonist or anti-IL-1 monoclonal antibody may therefore represent a rat...
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