نتایج جستجو برای: mefv mutation

تعداد نتایج: 292011  

Journal: :Genetics and molecular research : GMR 2015
E O Etem S S Koca D Erol S Yolbas E Oz H Elyas A Isık

Rheumatoid arthritis (RA) is a major cause of adult chronic inflammatory arthritis and an autoimmune disease of unknown etiology in which the inflammatory pathology involves T cell activation. Genetic mutations in the Mediterranean fever (MEFV) gene, encoding pyrin, influence the severity of RA, but the underlying mechanisms are not completely understood. In this study, we investigated whether ...

2011
Y Berkun A Karban S Padeh Y Shinar E Pras M Lidar A Livneh Y Bujanover

OBJECTIVE Familial Mediterranean fever (FMF) and Crohn's disease are autoinflammatory disorders, associated with genes (MEFV and NOD2/CARD15, respectively) encoding for regulatory proteins, important in innate immunity, apoptosis, cytokine processing, and inflammation. Although mutations in the MEFV gene were shown to modify Crohn's disease, the role of NOD2/CARD15 gene mutations in the FMF dis...

2015
ZB Özçakar N Cakar N Uncu B Acar Celikel F Yalçınkaya

Background MEditerranean FeVer (MEFV) gene encodes for the pyrin protein and a mutated pyrin is associated with a prolonged or augmented inflammation. Hence, various diseases were reported to be associated with familial Mediterranean fever (FMF) or carriers of MEFV mutations. However, systematic evaluation of all associated diseases in children with FMF has not been done previously. Aim The a...

2013
ED Batu F Kara Eroglu Y Bilginer S Ozen

Results The median age of onset was 12 months, with a maleto-female ratio of 1,6:1. The length of fever attacks ranged between 2-8 days, and symptom-free intervals between 10-45 days. The most common associated symptoms were pharyngitis (100%), abdominal pain (45,1%), aphthous stomatitis (43,7%), and cervical lymphadenitis (32,4%). During fever flares, the leukocyte count and acute phase reacta...

Journal: :JAMA dermatology 2014
María Leiva-Salinas Isabel Betlloch María Paloma Arribas Laura Francés Jose Carlos Pascual

Neutrophilic Lobular Panniculitis as an Expression of aWidened Spectrumof Familial Mediterranean Fever Familial Mediterranean fever (FMF) is considered to be an autosomal recessive disease, though it is controversial.1-3 The marenostrin-encoding fever gene (MEFV) is responsible for FMF. The most frequent mutation is M694V, which represents a genetic risk factor for development of amyloidosis1 a...

2008
A Vitale F La Torre C Caruso C Fede G Calcagno

Familial Mediterranean Fever (FMF) is an autosomal recessive disease (MEFV gene) characterized by recurrent fever and inflammatory serositis. Although majority of patients have random pattern of attacks, some reports described precipitating factors. A literature review indicated that FMF attacks occurring only during menstruation are rarely seen. We report the cases of three patients with sever...

Journal: :The Netherlands journal of medicine 2008
M Tischkowitz

In their otherwise excellent review of familial Mediterranean fever (FMF), Lidar and Livneh argue against testing for Mediterranean fever gene (MEFV) mutations both in their diagnostic algorithm and in their subsequent discussion of the case. Although the clinical criteria for FMF are highly sensitive and specific, incorporation of genetic testing will not only confirm the diagnosis but adds va...

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