A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
ORPHANET JOURNAL OF RARE DISEASES, vol.12, 2017 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 12
- Publication Date: 2017
- Doi Number: 10.1186/s13023-017-0720-3
- Journal Name: ORPHANET JOURNAL OF RARE DISEASES
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Hacettepe University Affiliated: Yes
Abstract
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.