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

Riccardo PapaMatteo DoglioHelen J LachmannSeza OzenJoost FrenkelAnna SimonBénédicte NevenJasmin Kuemmerle-DeschnerHuri OzgodanRoberta CaorsiSilvia FedericiMartina FinettiMaria TrachanaJurgen BrunnerLiliana BezrodnikMari Carmen Pinedo GagoMaria Cristina MaggioElena TsitsamiWafaa Al SuwairiGraciela EspadaAnna ShcherbinaGuzide AksuNicolino RupertoAlberto MartiniIsabella CeccheriniMarco Gattornonull null

Published in: Orphanet journal of rare diseases (2017)

We 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.

Keyphrases

end stage renal disease
primary care
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
emergency department
patient reported outcomes