E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
نویسندگان
چکیده
منابع مشابه
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.
BACKGROUND Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. OBJECTIVE To evaluate the ph...
متن کاملEXTENDED REPORT E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. Objective: To evaluate the ph...
متن کاملMEFV 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 کاملMEFV mutation analysis of familial Mediterranean fever in Japan.
BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation. FMF gene (MEFV) mutations have been identified primarily in patients from Mediterranean populations. Although several clinical cases have been reported in Japan, there have been few reports to date on mutation analysis. We studied FMF patients an...
متن کاملGenetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective
Background Systemic autoinflammatory diseases (SAIDs) are a group of diseases characterized by episodes of inflammation, usually manifested with fever and a variety of symptoms, including skin-rash, arthritis and abdominal pain. A clinical overlap between different SAIDs, may cause diagnosis uncertainty. Familial Mediterranean fever (FMF), the prototype of the autoinflammatory syndrome, is mani...
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ژورنال
عنوان ژورنال: Annals of the Rheumatic Diseases
سال: 2005
ISSN: 0003-4967
DOI: 10.1136/ard.2004.026963