نتایج جستجو برای: mefv gene mutations

تعداد نتایج: 1225908  

2015
A Berdeli G Mukhtarova A Oz S Musayev

Introduction Familial Mediterranean fever (FMF)(MIM 249100) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene(OMIM 608107) located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian d...

Journal: :Turk pediatri arsivi 2014
Ömer Faruk Beşer Fügen Çullu Çokuğraş Tufan Kutlu Ethem Erginöz Didem Gülcü Özgür Kasapçopur Tülay Erkan

AIM Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) carry similar clinical and biological properties. Both are characterized with chronic inflammation attacks and neutrophil migration and impaired apoptosis mechanism are present in the areas of damage in both conditions. In our study, we aimed to determine the frequency of association of FMF in patients with IBD, to comp...

Journal: :Clinical chemistry 2003
Isabelle Touitou

Familial Mediterranean fever (FMF) is an autoinflammatory disease mainly affecting populations surrounding the Mediterranean basin, with a genetic prevalence reaching 1–6% (1 ). Patients suffer from seemingly unprovoked bouts of fever, peritonitis, and arthritis, which resolve spontaneously. FMF has long been recognized as the sole “periodic fever”. Diagnosis often took years to establish after...

Journal: :The Journal of biological chemistry 2013
Donghai Wang Susanne Höing Heide Christine Patterson Umtul M Ahmad Vijay A K Rathinam Klaus Rajewsky Katherine A Fitzgerald Douglas T Golenbock

Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome (PAPA syndrome) is an autoinflammatory disease caused by aberrant production of the proinflammatory cytokine interleukin-1. Mutations in the gene encoding proline serine threonine phosphatase-interacting protein-1 (PSTPIP1) have been linked to PAPA syndrome. PSTPIP1 is an adaptor protein that interacts with PYRIN, the protein encoded b...

2016
H. S. HAYRAPETYAN T. F. SARKISIAN S. A. ATOYAN

The aim of this study is the investigation of one mutation carriers of MEFV gene among Armenian population. We designed and established the genetic register for proper collection of patients’ data including their ethnicity, clinical and laboratory data, as well as family cases. According to the results the frequency of FMF inheritance with only one mutation of MEFV gene among Armenian populatio...

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...

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