A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Papa R., Doglio M., Lachmann H. J., ÖZEN S., Frenkel J., Simon A., ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.12, 2017 (SCI-Expanded) identifier identifier identifier


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.