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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
Authors
Alberto Martini
Anna Shcherbina
+25 more
Anna Simon
Bénédicte Neven
Elena Tsitsami
for the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project
Graciela Espada
Guzide Aksu
Helen J. Lachmann
Huri Ozgodan
Isabella Ceccherini
Jasmin Kuemmerle-Deschner
Joost Frenkel
Jurgen Brunner
Liliana Bezrodnik
Marco Gattorno
Mari Carmen Pinedo Gago
Maria Cristina Maggio
Maria Trachana
Martina Finetti
Matteo Doglio
Nicolino Ruperto
Riccardo Papa
Roberta Caorsi
Seza Ozen
Silvia Federici
Wafaa Al Suwairi
Publication date
1 January 2017
Publisher
'Springer Science and Business Media LLC'
Doi
Cite
Abstract
PubMed ID: 29047407Background: 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. Results: Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available. Conclusions: 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. © 2017 The Author(s)
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