P01-022 – MEFV gene mutations registered to infevers

P01-022 – MEFV gene mutations registered to infevers

Methods Bidirectional DNA Sequencing analysis of MEFV gene in all coding exons and exon-intron boundaries was performed in Turkish patients clinically pre-diagnosed as FMF consulted in Ege University School of Medicine between years 2009-2013 (n=8000) and in healthy control group individuals (n=250). For patients who were mutation negative in screened exons, exons 1, 4, 6, 7, 8, and 9 were also...

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...

P01-004 – MEFV genes and FMF

PW02-022 - Recurrent fever syndromes: multiple gene mutations

Methods Seventy-seven centres from 33 countries have been contributing to an international secured web-based registry for autoinflammatory diseases (EUROFEVER), hosted by the PRINTO website (Paediatric Rheumatology International Trial Organisation, http://www.printo.it). The registry collects anonymised demographic, clinical, laboratory and molecular genetic data on patients with autoinflammato...

P01-006 – MEFV mutation detection in Arabic patients

Introduction Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T-cells. Familial Mediterranean fever (FMF) is the archetypal hereditary periodic fever syndrome and autoinflammatory disorder. It is characterized by recurrent selflimiting episodes of fever and painful polyserositis....