A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
Makaleler > Tam Makale · 2017
Yazarlar: Riccardo Papa, Matteo Doglio, Helen J. Lachmann, SEZA ÖZEN, Joost Frenkel, Anna Simon, Benedicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Güzide AKSU, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno
ORPHANET JOURNAL OF RARE DISEASES, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2017, cilt 12, ss 167-167
DOI: 10.1186/s13023-017-0720-3
Özet
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 these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry.