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Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases
  1. Nienke M Ter Haar1,2,
  2. Charlotte Eijkelboom2,3,
  3. Luca Cantarini4,
  4. Riccardo Papa5,
  5. Paul A Brogan6,
  6. Isabelle Kone-Paut7,
  7. Consuelo Modesto8,
  8. Michael Hofer9,
  9. Nicolae Iagaru10,
  10. Sárka Fingerhutová11,
  11. Antonella Insalaco12,
  12. Francesco Licciardi13,
  13. Yosef Uziel14,
  14. Marija Jelusic15,
  15. Irina Nikishina16,
  16. Susan Nielsen17,
  17. Efimia Papadopoulou-Alataki18,
  18. Alma Nunzia Olivieri19,
  19. Rolando Cimaz20,
  20. Gordana Susic21,
  21. Valda Stanevica22,
  22. Marielle van Gijn23,
  23. Antonio Vitale4,
  24. Nicolino Ruperto24,
  25. Joost Frenkel3,
  26. Marco Gattorno24
  27. Eurofever registry and the Pediatric Rheumatology International Trial Organization (PRINTO)
  1. 1 Laboratory of Translational Immunology & Department of Paediatric Rheumatology and Immunology, University Medical Center Utrecht, Utrecht, Netherlands
  2. 2 Faculty of Medicine, Utrecht University, Utrecht, Netherlands
  3. 3 Department of Paediatrics, University Medical Center Utrecht, Utrecht, Netherlands
  4. 4 Rheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy
  5. 5 Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy
  6. 6 Institute of Child Health, University College London, London, UK
  7. 7 Department of Paediatric Rheumatology and CEREMAI, Hôpital de Bicêtre, National Reference Centre for Auto-Inflammatory Diseases, le Kremlin-Bicêtre, Paris, France
  8. 8 Pediatric Rheumatology, Hospital Universitario Vall d'Hebron, Barcelona, Spain
  9. 9 Unité Centre Multisite Romande d’Immuno-e Rhumatologie Pediatrique, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
  10. 10 Pediatrie, Institutul pentru Ocrotirea Mamei și Copilului, București, Romania
  11. 11 Department of Pediatrics and Adolescent Medicine, Charles University in Prague and General University Hospital, Praha, Czech Republic
  12. 12 Pediatric Rheumatology, Ospedale Pediatrico Bambin Gesù, Roma, Italy
  13. 13 Dipartimento di Scienze della Sanità Pubblica e Pediatrica, Università degli Studi di Torino, Torino, Italy
  14. 14 Pediatric Rheumatology Unit, Department of Pediatrics, Meir Medical Centre, Kfar Saba and Sackler School of Medicine, Kfar Saba, Israel
  15. 15 Department of Paediatric Rheumatology and Immunology, University Hospital Centre Zagreb, Zagreb, Croatia
  16. 16 Pediatric Department, V.A. Nasonova Research Institute of Rheumatology, Moscow, Russian Federation
  17. 17 Børnereumatologisk, Juliane Marie Centret, Rigshospitalet, København, Denmark
  18. 18 Fourth Department of Pediatrics, Aristotle University of Thessaloniki Papageorgiou Hospital, Thessaloniki, Greece
  19. 19 Department of Woman and Child and General and Specialistic Surgery, University of the Study of Campania Luigi Vanvitelli, Napoli, Italy
  20. 20 Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
  21. 21 Department of Pediatric Rheumatology, Institute of Rheumatology, BelgradeInstitute of Rheumatology, Belgrade, Serbia
  22. 22 Paediatric Department, Riga Stradins University, Children University Hospital, Rīga, Latvia
  23. 23 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands
  24. 24 Center for Autoinflammatory Diseases and Immunodeficiency, IRCCS Instituto Giannina Gaslini, Genoa, Italy
  1. Correspondence to Prof Dr Joost Frenkel; j.frenkel{at}umcutrecht.nl; Dr Marco Gattorno; marcogattorno{at}gaslini.org

Footnotes

  • NMTH and CE are joint first authors.

  • JF and MGare joint senior authors.

  • Handling editor Prof Josef S Smolen

  • Correction notice This article has been corrected since it published Online First. The author groups have been added and the last affiliation updated.

  • Contributors NMTH, CE, JF, MG: collection, analysis, interpretation of data. NMTH, CE: wrote manuscript. JF, MG: checked and revised manuscript. LC, RP, PB, IK-P, CM, MH, NI, SF, AI, FL, YU, MJ, IN, SN, EP-A, ANO, RC, GS, VS, MvG, AV, NR: provided data, checked and approved the manuscript.

  • Funding The project has been supported by the Executive Agency For Health and Consumers (EAHC, Project No. 2007332) and E-rare-3 project (INSAID, grant 003037603). Novartis and SOBI provided unrestricted grants for the Eurofever registry.

  • Competing interests None declared.

  • Patient and public involvement statement Patients were not involved in the research process of this study. Results of this study will be shared with patients via the Eurofever website.

  • Patient consent for publication Parental/guardian consent obtained.

  • Ethics approval Ethics approval was obtained from the G Gaslini Institute institutional review board.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available on reasonable request.

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Footnotes

  • NMTH and CE are joint first authors.

  • JF and MGare joint senior authors.

  • Handling editor Prof Josef S Smolen

  • Correction notice This article has been corrected since it published Online First. The author groups have been added and the last affiliation updated.

  • Contributors NMTH, CE, JF, MG: collection, analysis, interpretation of data. NMTH, CE: wrote manuscript. JF, MG: checked and revised manuscript. LC, RP, PB, IK-P, CM, MH, NI, SF, AI, FL, YU, MJ, IN, SN, EP-A, ANO, RC, GS, VS, MvG, AV, NR: provided data, checked and approved the manuscript.

  • Funding The project has been supported by the Executive Agency For Health and Consumers (EAHC, Project No. 2007332) and E-rare-3 project (INSAID, grant 003037603). Novartis and SOBI provided unrestricted grants for the Eurofever registry.

  • Competing interests None declared.

  • Patient and public involvement statement Patients were not involved in the research process of this study. Results of this study will be shared with patients via the Eurofever website.

  • Patient consent for publication Parental/guardian consent obtained.

  • Ethics approval Ethics approval was obtained from the G Gaslini Institute institutional review board.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available on reasonable request.

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