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

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Atıf İçin Kopyala

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

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

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 12
• Basım Tarihi: 2017
• Doi Numarası: 10.1186/s13023-017-0720-3
• Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• İstanbul Üniversitesi Adresli: Evet

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.