PReS-FINAL-2337: The eurofever registry: 3 years of enrollment
نویسندگان
چکیده
PReS-FINAL-2337: The eurofever registry: 3 years of enrollment S Federici, J Frenkel, S Ozen, PRINTO and Eurofever Project, J Antòn, PRINTO and Eurofever Project, JI Arostegui, F De Benedetti, P Dolezalova, H Girschick, V Hentgen, M Hofer, H Lachmann, I Koné-Paut, J Kuemmerle-Deschner, B Neven, H Ozdogan, C Rose, A Simon, S Stojanov, N Toplak, I Touitou, R Vesely, P Woo, C Wouters, N Ruperto, A Martini, M Gattorno, PRINTO and Eurofever Project
منابع مشابه
PReS-FINAL-2238: PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome: results from the Eurofever registry
Results In February 2013 baseline and clinical information were available of 2567 patients from 88 centers in the Eurofever registry. Of these 16 patients PAPA patients (M:F = 8:8), from 3 different centers, fulfilled the inclusion criteria and were therefore analysed: 10 were of the same family, in 3 patients the disease was caused by a de novo mutation while in 3 cases the mutation was found ...
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BACKGROUND Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in thes...
متن کاملPW02-007 - The Eurofever registry: 3 years of enrollment
Methods A web-based registry collecting baseline and crosssectional clinical information on Autoinflammatory diseases is available in the member area of the PRINTO web-site (www.printo.it). The registry is open to all pediatric and adult Centers with a specific interest in Autoinflammatory diseases. The following monogenic autoinflammatory diseases were considered: Familial Mediterranean Fever ...
متن کاملPReS-FINAL-2194: Evidence-based clinical classification criteria for periodic fevers
Methods All FMF, TRAPS, MKD and CAPS patients enrolled in the Eurofever registry until March 2013 were evaluated. For each disease gold standards were considered according to the following criteria: i) clinical validation by centers and disease-principal investigator, ii) confirmative molecular analysis (2 mutations for MEFV with at least one mutation in exon 10, 2 mutations of MVK gene, 1 muta...
متن کاملThe Eurofever Registry for autoinflammatory diseases: results of the first 15 months of enrolment
The Eurofever Registry for autoinflammatory diseases: results of the first 15 months of enrolment N Toplak, J Frenkel, S Ozen, F De Benedetti, M Hofer, I Kone-Paut, H Girschick, B Neven, H Ozdogan, J Kummerle-Deschner, J Arostegui, A Simon, S Stojanov, R Vesely, C Wouters, V Hentgen, C Rose, P Dolezalova, H Lachmann, P Woo, I Touitou, A Martini, N Ruperto, M Gattorno, PRINTO, Eurofever and Euro...
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