A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eu...
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
About this item
Full title
Author / Creator
Papa, Riccardo , Doglio, Matteo , Lachmann, Helen J. , Ozen, Seza , Frenkel, Joost , Simon, Anna , Neven, Bénédicte , Kuemmerle-Deschner, Jasmin , Ozgodan, Huri , Caorsi, Roberta , Federici, Silvia , Finetti, Martina , Trachana, Maria , Brunner, Jurgen , Bezrodnik, Liliana , Pinedo Gago, Mari Carmen , Maggio, Maria Cristina , Tsitsami, Elena , Al Suwairi, Wafaa , Espada, Graciela , Shcherbina, Anna , Aksu, Guzide , Ruperto, Nicolino , Martini, Alberto , Ceccherini, Isabella , Gattorno, Marco , for the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project and Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
Authors, Artists and Contributors
Author / Creator
Doglio, Matteo
Lachmann, Helen J.
Ozen, Seza
Frenkel, Joost
Simon, Anna
Neven, Bénédicte
Kuemmerle-Deschner, Jasmin
Ozgodan, Huri
Caorsi, Roberta
Federici, Silvia
Finetti, Martina
Trachana, Maria
Brunner, Jurgen
Bezrodnik, Liliana
Pinedo Gago, Mari Carmen
Maggio, Maria Cristina
Tsitsami, Elena
Al Suwairi, Wafaa
Espada, Graciela
Shcherbina, Anna
Aksu, Guzide
Ruperto, Nicolino
Martini, Alberto
Ceccherini, Isabella
Gattorno, Marco
for the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project
Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_23324bbfa1594842a375f43cca7080b6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_23324bbfa1594842a375f43cca7080b6
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-017-0720-3
