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. In Oct 18, 2017, Riccardo Papa and others published an article in << Orphanet Journal of Rare Diseases >> which title is “A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry”. The aim of their study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry. Finally, they provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites.
Read More
