Results 11 to 20 of about 6,236 (217)

MEFV mutations in systemic JIA [PDF]

Pediatric Rheumatology, 2008
Results 2 carrier for M694V and two patients who were homozygote for MEFV mutations. Both of these patients were among the most severe patients in the group. One had an excellent response to etanercept whereas the other was resistant to anti-TNF and other conventional treatments and had only a partial response to thalidomide.
Aktay Ayaz N, Bilginer Y, Yilmaz E, Ergüven M, Topaloglu R, Bakkaloglu A, Ozen S   +6 more
openaire   +3 more sources

MEFV gene analysis in PFAPA

The Journal of Pediatrics, 2003
The PFAPA syndrome is a chronic disease of unknown etiology characterized by Periodic episodes of high Fever accompanied by Aphthous stomatitis, Pharyngitis, and cervical Adenitis, sometimes associated with headache and/ or abdominal or joint pain.
Cécile, Cazeneuve, David, Geneviève, Serge, Amselem, Véronique, Hentgen, Isabelle, Hau, Philippe, Reinert   +5 more
openaire   +3 more sources

Impact of MEFV mutations on inflammatory activity and long-term relapse in pediatric IgA vasculitis [PDF]

BMC Pediatrics
Background IgA vasculitis (IgAV) is the most common childhood small-vessel vasculitis. MEFV variants may enhance innate inflammatory responses, but their effect on disease course remains unclear.
Göktuğ Özdemir, Esma Kaya Özdemir, Asım Gültekin   +2 more
doaj   +2 more sources

MEFV mutations in systemic onset juvenile idiopathic arthritis [PDF]

Rheumatology, 2008
Autoinflammatory diseases constitute a large spectrum of monogenic diseases like FMF or cryopyrin-associated periodic syndromes (CAPS) and complex genetic trait diseases such as systemic onset juvenile idiopathic arthritis (SoJIA). An increased rate of MEFV mutations has been shown among patients with PAN and HSP, in populations where FMF is frequent ...
N A, Ayaz, S, Ozen, Y, Bilginer, M, Ergüven, E, Taşkiran, E, Yilmaz, N, Beşbaş, R, Topaloğlu, A, Bakkaloğlu   +8 more
openaire   +3 more sources

MEFVgene is a probable susceptibility gene for Behçet's disease [PDF]

Scandinavian Journal of Rheumatology, 2005
Behçet's disease (BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial Mediterranean fever (FMF), is also known to be highly prevalent in these populations. The prevalence of BD is higher in the FMF patient population
Imirzalioglu, N., Dursun, A., Tastan, B., Soysal, Y., Yakicier, M.C.   +4 more
openaire   +7 more sources

Are carriers for MEFV mutations "healthy"?

Clinical and experimental rheumatology, 2006
We aimed to compare whether carriers for the MEFV mutations display an increase or decrease in certain features. We compared the frequency of a number of inflammatory symptoms and diseases in carriers and a control population.A questionnaire was designed to be applied to parents of children with FMF and a control group of parents. Clinical features and
KASAPÇOPUR, Özgür, Ozen, S., Cakar, N., Yalcinkaya, F., Kalyoncu, M., Bakkaloglu, A., Ozturk, S., Dereli, E., Tunca, M., Acar, B. C.   +9 more
core   +5 more sources

The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease [PDF]

Communications Medicine
Background Idiopathic Multicentric Castleman Disease, Thrombocytopenia, Anasarca, Fever, Reticulin Fibrosis, Organomegaly (iMCD-TAFRO) is a rare cytokine storm syndrome with high mortality.
Yumo Du, Shuangfeng Xie, Zhen Dai, Wenqi Jia, Wenjuan Li, Long Zhang, Guangzhou Du, Haijiao Zhang, Qiao Lin, Meiping Wu, Yiqing Li, Wenjuan Yang, Jie Xiao, Yongxun Zhuansun, Jianguo Li, Wenying Zhang, Shanping Jiang, Danian Nie, Kezhi Huang   +18 more
doaj   +2 more sources

Prevalence of the MEFV Gene Mutations in Childhood Polyarteritis Nodosa

The Journal of Pediatrics, 2007
To test the hypothesis that alterations in the Mediterranean fever (MEFV) gene are a susceptibility factor for the development of polyarteritis nodosa (PAN) we investigated the prevalence of MEFV mutations in patients with PAN without any symptoms of familial Mediterranean fever (FMF).Pediatric patients with PAN (n = 29) were enrolled in this study ...
Fatoş, Yalçinkaya, Z Birsin, Ozçakar, Ozgür, Kasapçopur, Ayşenur, Oztürk, Nejat, Akar, Ayşin, Bakkaloğlu, Nil, Arisoy, Mesiha, Ekim, Seza, Ozen   +8 more
openaire   +3 more sources

Genetic Analysis of MEFV Gene Pyrin Domain in Patients With Behçet's Disease [PDF]

Mediators of Inflammation, 2006
Objectives. Behçet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD.
Ahmet Dursun, Hatice Gul Durakbasi-Dursun, Ayse Gul Zamani, Zerrin Gülin Gulbahar, Recep Dursun, Cengiz Yakicier   +5 more
doaj   +3 more sources

Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease [PDF]

Gastro Hep Advances
Background and Aims: The Mediterranean fever (MEFV) gene, which encodes a pyrin protein, is the causative gene of familial Mediterranean fever. Patients with inflammatory bowel disease (IBD) have a significantly higher frequency of MEFV mutations than ...
Tomoya Nakamura, Kohei Wagatsuma, Yuki Hayashi, Hiromu Morikubo, Daisuke Saito, Masashi Idogawa, Masanori Nojima, Jun Miyoshi, Minoru Matsuura, Tadakazu Hisamatsu, Hiroshi Nakase   +10 more
doaj   +2 more sources