نتایج جستجو برای: mefv mutation

تعداد نتایج: 292011  

2013
B Aladbe A Aly R Taha H Elshanti T Moussa F Al Amry B Fathalla

Results Familial Mediterranean Fever: 30 symptomatic children, 9 asymptomatic carriers, and 21 adult relatives were included. Among symptomatic children, the male to female ratio was 1:1, 19 were Arabic, 8 were Persian, and 3 were Turkish/Arabic. Median age at first symptoms was 5 years (range 1 – 16 years). Most common manifestations included recurrent abdominal pain and fever (n=25), arthralg...

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: :Annals of the Rheumatic Diseases 2021

Background: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory hereditary disease characterized by recurrent episodes of with sterile peritonitis, pleural inflammation, arthritis, and/or erysipelas-like rash. Among all variants the MEFV gene, according to literature, five pathogenic ones have been identified, which in 75% cases lead development typical clinical presentation: V72...

Journal: :The Turkish journal of pediatrics 2012
Deniz Aslan

The relationship between the MEFV gene (MEFV), which is mutated in familial Mediterranean fever (FMF) disease and located on 16p13.3, and clonal myeloid disorders has been a subject of concern, and there have been studies undertaken in an effort to explain this situation1-3. In these studies, it was speculated that MEFV is a cancer susceptibility gene because the protein encoded by this gene, p...

Journal: :گوارش 0
morteza khatibian peyman arab

familialmediterranean fever (fmf) is a hereditary syndrome characterized by recurrent attacks of fever and serositis. liver involvement in fmf has been reported in association with amyloidosis or rarely with vasculitis.in this report, a 32 year-old man with recurrent attacks of fever, abdominal pain and arthralgia is described who had moderate increase in liver transaminases only during disease...

2015
C Kadhim F Maiolini L Cerrito LL Sicignano M Giovinale E Verrecchia F Gurrieri M Genuardi R Manna

Introduction PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis, adenitis) is an autoinflammatory disease, for which no genetic marker has been identified yet, and its etiology remains unknown. However, the clinical and biochemical similarities to other autoinflammatory conditions, including Familial Mediterranean Fever (FMF), suggest that a genetic impairment might constitute the ...

2013
A Omenetti S Carta L Delfino A Martini M Gattorno A Rubartelli

Introduction Familial Mediterranean fever (FMF) is the most common of the hereditary autoinflammatory disorders. FMF is caused by mutations of MEFV gene which encodes for pyrin. It has been recently reported that frequency of FMF-like symptoms decreases from patients carrying two high penetrance mutations towards patients with a single low penetrance mutation. The effectiveness of interleukin (...

Journal: :Respiration; international review of thoracic diseases 2010
J C Lega C Khouatra V Cottin J F Cordier

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease especially affecting populations of Mediterranean origin with an autosomal recessive inheritance. The cardinal manifestations consist of short febrile and painful attacks of peritonitis, arthritis and pleuritis developing during childhood. We report the case of a 26-year-old man of Tunisian descent who had febrile episodes...

2014
Ali Taylan Yasar Yildiz Ismail Sari Guliz Ozkok

Coexistence of familial Mediterranean fever (FMF) and other inflammatory disorders has been frequently reported, but no specific underlying factor has been identified. We report a patient with FMF who is presented with long-standing ankylosing spondylitis (AS) and cutaneous leukocytoklastic vasculitis (LV) of the lower limbs. It is the first report on combination of FMF with AS and LV. The Medi...

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