MEFV gene mutations in neuro‐Behçet's disease and neuro‐Sweet disease
نویسندگان
چکیده
منابع مشابه
MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...
متن کاملCommon MEFV mutations (M694V, V726A, M680I, M694I, and E148Q ) in patients with Behcet\'s disease in Ardabil
Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and perform...
متن کاملFamilial Mediterranean fever gene (MEFV) mutations in patients with rheumatic heart disease.
Familial Mediterranean fever (FMF) is an autosomal recessively inherited inflammatory disease that primarily affects Jews, Armenians, Turks, and Arabs. It is characterised by recurrent self limited attacks of fever accompanied by inflammation of the peritoneum, synovium, and pleura. The gene responsible for FMF (MEFV) has been cloned recently on the short arm of chromosome 16 and more than 20 m...
متن کاملNovel mutations in ATP7B gene of Wilson\'s disease in Iranian patients
Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...
متن کاملMOLECULAR STUDY OF E148Q MUTATION IN EXON 2 OF MEFV GENE IN PATIENTS WITH PREMATURE CORONARY ARTERY DISEASE
Background & Aims: Recent studies have shown that some of the MEFV gene mutations are common in patients with coronary artery disease. The present study was designed to investigate the presence or absence of E148Q mutation in exon 2 of MEFV gene in patients with premature coronary artery disease. Materials & Methods: In this study, 90 patients with coronary artery disease were voluntarily sele...
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ژورنال
عنوان ژورنال: Annals of Clinical and Translational Neurology
سال: 2019
ISSN: 2328-9503,2328-9503
DOI: 10.1002/acn3.50937