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

Maria Cristina Maggio, Liliana Bezrodnik, Maria Trachana, Elena Tsitsami, Bénédicte Neven, Guzide Aksu, Marco Gattorno, Isabella Ceccherini, Anna Shcherbina, Helen J. Lachmann, Maria Cristina Maggio, Joost Frenkel, Seza Ozen, Alberto Martini, Anna Simon, Jasmin Kuemmerle-Deschner, Graciela Espada, Roberta Caorsi, Silvia Federici, Nicolino RupertoMartina Finetti, Huri Ozgodan, Wafaa Al Suwairi, Matteo Doglio, Riccardo Papa, Jurgen Brunner, Mari Carmen Pinedo Gago

Research output: Contribution to journalArticle

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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.
Original languageEnglish
Pages (from-to)167-
Number of pages41
JournalOrphanet Journal of Rare Diseases
Volume12
Publication statusPublished - 2017

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Hereditary Autoinflammatory Diseases
Genetic Association Studies
Registries
Fever
Databases
Mutation
Rare Diseases
Age of Onset
Genes
Physicians
Phenotype

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Maggio, M. C., Bezrodnik, L., Trachana, M., Tsitsami, E., Neven, B., Aksu, G., ... Pinedo Gago, M. C. (2017). A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. Orphanet Journal of Rare Diseases, 12, 167-.

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. / Maggio, Maria Cristina; Bezrodnik, Liliana; Trachana, Maria; Tsitsami, Elena; Neven, Bénédicte; Aksu, Guzide; Gattorno, Marco; Ceccherini, Isabella; Shcherbina, Anna; Lachmann, Helen J.; Maggio, Maria Cristina; Frenkel, Joost; Ozen, Seza; Martini, Alberto; Simon, Anna; Kuemmerle-Deschner, Jasmin; Espada, Graciela; Caorsi, Roberta; Federici, Silvia; Ruperto, Nicolino; Finetti, Martina; Ozgodan, Huri; Al Suwairi, Wafaa; Doglio, Matteo; Papa, Riccardo; Brunner, Jurgen; Pinedo Gago, Mari Carmen.

In: Orphanet Journal of Rare Diseases, Vol. 12, 2017, p. 167-.

Research output: Contribution to journalArticle

Maggio, MC, Bezrodnik, L, Trachana, M, Tsitsami, E, Neven, B, Aksu, G, Gattorno, M, Ceccherini, I, Shcherbina, A, Lachmann, HJ, Maggio, MC, Frenkel, J, Ozen, S, Martini, A, Simon, A, Kuemmerle-Deschner, J, Espada, G, Caorsi, R, Federici, S, Ruperto, N, Finetti, M, Ozgodan, H, Al Suwairi, W, Doglio, M, Papa, R, Brunner, J & Pinedo Gago, MC 2017, 'A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry', Orphanet Journal of Rare Diseases, vol. 12, pp. 167-.
Maggio, Maria Cristina ; Bezrodnik, Liliana ; Trachana, Maria ; Tsitsami, Elena ; Neven, Bénédicte ; Aksu, Guzide ; Gattorno, Marco ; Ceccherini, Isabella ; Shcherbina, Anna ; Lachmann, Helen J. ; Maggio, Maria Cristina ; Frenkel, Joost ; Ozen, Seza ; Martini, Alberto ; Simon, Anna ; Kuemmerle-Deschner, Jasmin ; Espada, Graciela ; Caorsi, Roberta ; Federici, Silvia ; Ruperto, Nicolino ; Finetti, Martina ; Ozgodan, Huri ; Al Suwairi, Wafaa ; Doglio, Matteo ; Papa, Riccardo ; Brunner, Jurgen ; Pinedo Gago, Mari Carmen. / A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. In: Orphanet Journal of Rare Diseases. 2017 ; Vol. 12. pp. 167-.
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title = "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://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.",
author = "Maggio, {Maria Cristina} and Liliana Bezrodnik and Maria Trachana and Elena Tsitsami and B{\'e}n{\'e}dicte Neven and Guzide Aksu and Marco Gattorno and Isabella Ceccherini and Anna Shcherbina and Lachmann, {Helen J.} and Maggio, {Maria Cristina} and Joost Frenkel and Seza Ozen and Alberto Martini and Anna Simon and Jasmin Kuemmerle-Deschner and Graciela Espada and Roberta Caorsi and Silvia Federici and Nicolino Ruperto and Martina Finetti and Huri Ozgodan and {Al Suwairi}, Wafaa and Matteo Doglio and Riccardo Papa and Jurgen Brunner and {Pinedo Gago}, {Mari Carmen}",
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TY - JOUR

T1 - A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

AU - Maggio, Maria Cristina

AU - Bezrodnik, Liliana

AU - Trachana, Maria

AU - Tsitsami, Elena

AU - Neven, Bénédicte

AU - Aksu, Guzide

AU - Gattorno, Marco

AU - Ceccherini, Isabella

AU - Shcherbina, Anna

AU - Lachmann, Helen J.

AU - Maggio, Maria Cristina

AU - Frenkel, Joost

AU - Ozen, Seza

AU - Martini, Alberto

AU - Simon, Anna

AU - Kuemmerle-Deschner, Jasmin

AU - Espada, Graciela

AU - Caorsi, Roberta

AU - Federici, Silvia

AU - Ruperto, Nicolino

AU - Finetti, Martina

AU - Ozgodan, Huri

AU - Al Suwairi, Wafaa

AU - Doglio, Matteo

AU - Papa, Riccardo

AU - Brunner, Jurgen

AU - Pinedo Gago, Mari Carmen

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

UR - http://hdl.handle.net/10447/263731

UR - http://www.ojrd.com/

M3 - Article

VL - 12

SP - 167-

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

ER -