نتایج جستجو برای: mefv mutation

تعداد نتایج: 292011  

2015
Morteza Jabbarpour Bonyadi Sousan Mir Najd Gerami Mohammad Hossein Somi Saeed Dastgiri

Article type: Original article Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribu...

Journal: : 2023

Objective: We aimed to evaluate MEFV mutation frequency and the effects of mutations on clinical course including renal involvement in children with Henoch-Schonlein Purpura (HSP).
 Methods: Children a diagnosis HSP who were evaluated for presence enrolled this study. Patients primarily assigned into two groups based as Group 1 patients without 2 at least one allele (heterozygous, homozygo...

Journal: :Rheumatology 2006
H J Lachmann B Sengül T U Yavuzşen D R Booth S E Booth A Bybee J R Gallimore M Soytürk S Akar M Tunca P N Hawkins

OBJECTIVE To prospectively monitor inflammatory activity over a prolonged period in a cohort of Turkish patients with FMF, their healthy relatives and healthy controls and to relate this to their MEFV genotypes. METHODS 43 patients with FMF and 75 of their asymptomatic relatives underwent fortnightly assessments and venesection for measurement of CRP and SAA over 5 months. 50 unrelated health...

2017
Mike M Moradian Davit Babikyan Dion Banoian Hasmik Hayrapetyan Hakob Manvelyan Nareh Avanesian Tamara Sarkisian

BACKGROUND Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type. METHODS In this study, we analyzed the mutations that have been reported in the MEFV gene from symp...

2014
Farhad Salehzadeh Maryam Vahedi Saeid Hosseini-Asl Sepideh Jahangiri Shahram Habibzadeh Mahsa Hosseini-Khotbesara

OBJECTIVE Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. METHODS 21 patients with PFAPA syndr...

Journal: :Clinical and experimental rheumatology 2011
Yoav Baruch Efrat Dagan Itzhak Rosner Massimo Fiorilli Ruth Gershoni-Baruch Michael Rozenbaum

OBJECTIVES Given the pathological similarities between Behçet's disease (BD), Familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Crohn's disease (CD) we evaluated the frequency of mutations and polymorphisms in MEFV, TNFRSF1A and CARD15 in Israeli BD patients of either Jewish or Arab descent. METHODS Fifty-four BD patients (11 Jews and 43 Arabs), evaluat...

2017
Linqing Zhong Hongmei Song Wei Wang Ji Li Mingsheng Ma

OBJECTIVE The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. METHODS Two investigators independently searched the literature regarding the association of MEFV with AS in the PubMed, EMBASE, Web of Science, and Scopus databases. ...

Journal: :Clinical and experimental rheumatology 2008
L Cantarini C T Baldari S Rossi Paccani O M Lucherini F Laghi Pasini M Galeazzi

Sirs, We read with interest the article by Granel et al. (1) who described an overlap syndrome between familial Mediterranean fever (FMF) and tumor necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS) in a patient carrying a mutation in both the MEFV and TNFRSF1A genes, In his report Granel advocated the importance of a better evaluation of the role of the R92Q mutation in TNFRSF...

Journal: :Pamukkale Medical Journal 2022

Purpose: Mutations in the Mediterranean FeVer (MEFV) gene, which causes familial fever (FMF), may also cause emergence of other specific rheumatic diseases. This study aims to determine frequency rheumatologic diseases paediatric FMF patients, evaluate whether there are clinical and genetic differences between those with without concomitant diseases, compare data previous studies.
 Materia...

Journal: :Seminars in arthritis and rheumatism 2008
Mohsen Esmaeili Mortaza Bonyadi Mandana Rafeey Kazem Sakha Mohammad Hossein Somi

OBJECTIVES To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations among Azeri Turkish patients from northwestern Iran. METHODS One hundred ninety unrelated patients were referred by specialists to the Molecular-Medical Genetic Center of Tabriz. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV g...

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