A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
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:...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-10-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-017-0720-3 |
| _version_ | 1828415338280124416 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Riccardo Papa |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T13:43:57Z |
| format | Article |
| id | doaj.art-23324bbfa1594842a375f43cca7080b6 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-10T13:43:57Z |
| publishDate | 2017-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-23324bbfa1594842a375f43cca7080b62022-12-22T01:46:33ZengBMCOrphanet Journal of Rare Diseases1750-11722017-10-0112114110.1186/s13023-017-0720-3A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registryRiccardo Papa0Matteo Doglio1Helen J. Lachmann2Seza Ozen3Joost Frenkel4Anna Simon5Bénédicte Neven6Jasmin Kuemmerle-Deschner7Huri Ozgodan8Roberta Caorsi9Silvia Federici10Martina Finetti11Maria Trachana12Jurgen Brunner13Liliana Bezrodnik14Mari Carmen Pinedo Gago15Maria Cristina Maggio16Elena Tsitsami17Wafaa Al Suwairi18Graciela Espada19Anna Shcherbina20Guzide Aksu21Nicolino Ruperto22Alberto Martini23Isabella Ceccherini24Marco Gattorno25for the Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever ProjectEULAR Centre of Excellence in Rheumatology 2008-2018, IRCCS Istituto Giannina GasliniEULAR Centre of Excellence in Rheumatology 2008-2018, IRCCS Istituto Giannina GasliniNational Amyloidosis Centre, Royal Free Campus, University College Division of MedicineDepartment of Pediatric Nephrology and Rheumatology, Hacettepe UniversityDivision of Pediatrics, University Medical CenterDepartment of Internal Medicine, Radboudumc Expertise Centre for Immunodeficiency and Autoinflammation, RadboudumcCentre de reference national pour les Arthrites Juveniles, Unite d’Immunologie, Hematologie et Rhumatologie Pediatrique, Universite Paris-Descartes, IMAGINE Institute, Hopital Necker-Enfants MaladesRheumatologisches Zentrum/Ambulanzfur Autoimmunerkrankungen, Universitatsklinikum TubingenIc Hastalıkları ABD, Romatoloji BD, Istanbul Universitesi Cerrahpaşa Tıp FakültesiEULAR Centre of Excellence in Rheumatology 2008-2018, IRCCS Istituto Giannina GasliniEULAR Centre of Excellence in Rheumatology 2008-2018, IRCCS Istituto Giannina GasliniEULAR Centre of Excellence in Rheumatology 2008-2018, IRCCS Istituto Giannina GasliniDepartment of Pediatrics I, Aristotle University of ThessalonikiDepartment fur Kinder-und Jugendheilkunde, Klinikfur Padiatrie I, Padiatrische Rheumatologie, Medizinische Universität InnsbruckImmunology Unit, Hospital de Ninos Ricardo GutierrezUnidad de Reumatología Pediátrica, Hospital Universitario CrucesDipartimento Universitario, Ospedale dei BambiniPediatric Rheumatology Unit, 1st Department of Pediatrics, Children’s Hospital Aghia Sophia, University of AthensDepartment of Pediatrics, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health SciencesSeccion Reumatologia, Hospital de Niños Ricardo GutierrezResearch Institute for Paediatric HematologyEgeUniversitesi Tıp Fakultesi, Pediatrik RomatolojiEULAR Centre of Excellence in Rheumatology 2008-2018, IRCCS Istituto Giannina GasliniDirezione Scientifica, IRCCS Istituto Giannina GasliniUOC Medical Genetics, IRCCS Istituto Giannina GasliniEULAR Centre of Excellence in Rheumatology 2008-2018, IRCCS Istituto Giannina GasliniAbstract 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.http://link.springer.com/article/10.1186/s13023-017-0720-3Hereditary recurrent feversFMFCapsTrapsMKDInfevers |
| spellingShingle | 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 A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry Orphanet Journal of Rare Diseases Hereditary recurrent fevers FMF Caps Traps MKD Infevers |
| title | A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry |
| title_full | A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry |
| title_fullStr | A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry |
| title_full_unstemmed | A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry |
| title_short | A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry |
| title_sort | web based collection of genotype phenotype associations in hereditary recurrent fevers from the eurofever registry |
| topic | Hereditary recurrent fevers FMF Caps Traps MKD Infevers |
| url | http://link.springer.com/article/10.1186/s13023-017-0720-3 |
| work_keys_str_mv | AT riccardopapa awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT matteodoglio awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT helenjlachmann awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT sezaozen awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT joostfrenkel awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT annasimon awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT benedicteneven awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT jasminkuemmerledeschner awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT huriozgodan awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT robertacaorsi awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT silviafederici awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT martinafinetti awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT mariatrachana awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT jurgenbrunner awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT lilianabezrodnik awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT maricarmenpinedogago awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT mariacristinamaggio awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT elenatsitsami awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT wafaaalsuwairi awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT gracielaespada awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT annashcherbina awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT guzideaksu awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT nicolinoruperto awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT albertomartini awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT isabellaceccherini awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT marcogattorno awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT forthepaediatricrheumatologyinternationaltrialsorganisationprintoandtheeurofeverproject awebbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT riccardopapa webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT matteodoglio webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT helenjlachmann webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT sezaozen webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT joostfrenkel webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT annasimon webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT benedicteneven webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT jasminkuemmerledeschner webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT huriozgodan webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT robertacaorsi webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT silviafederici webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT martinafinetti webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT mariatrachana webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT jurgenbrunner webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT lilianabezrodnik webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT maricarmenpinedogago webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT mariacristinamaggio webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT elenatsitsami webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT wafaaalsuwairi webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT gracielaespada webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT annashcherbina webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT guzideaksu webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT nicolinoruperto webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT albertomartini webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT isabellaceccherini webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT marcogattorno webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry AT forthepaediatricrheumatologyinternationaltrialsorganisationprintoandtheeurofeverproject webbasedcollectionofgenotypephenotypeassociationsinhereditaryrecurrentfeversfromtheeurofeverregistry |