Bibliographic Details
| Title: |
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry |
| Authors: |
Riccardo Papa, Matteo Doglio, Helen J. Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno, for the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project |
| Source: |
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-41 (2017) |
| Publisher Information: |
BMC, 2017. |
| Publication Year: |
2017 |
| Collection: |
LCC:Medicine |
| Subject Terms: |
Hereditary recurrent fevers, FMF, Caps, Traps, MKD, Infevers, Medicine |
| More Details: |
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. 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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1750-1172 |
| Relation: |
http://link.springer.com/article/10.1186/s13023-017-0720-3; https://doaj.org/toc/1750-1172 |
| DOI: |
10.1186/s13023-017-0720-3 |
| Access URL: |
https://doaj.org/article/23324bbfa1594842a375f43cca7080b6 |
| Accession Number: |
edsdoj.23324bbfa1594842a375f43cca7080b6 |
| Database: |
Directory of Open Access Journals |
