Skip to content


  • Poster presentation
  • Open Access

Prevalence of monogenic autoinflammatory diseases among Pediatric Rheumatology centers: the Eurofever PReS/PRINTO survey

  • 1,
  • 2,
  • 3,
  • 4,
  • 5,
  • 6,
  • 7,
  • 8,
  • 9,
  • 10,
  • 11,
  • 12,
  • 13,
  • 14,
  • 1 and
  • 1
Pediatric Rheumatology20086 (Suppl 1) :P194

  • Published:


  • Affected Patient
  • Molecular Diagnosis
  • Western European Country
  • Pediatric Rheumatology
  • Autoinflammatory Disease


Due to the rarity of Autoinflammatory diseases, affected patients are usually seen in a number of different centers. Aim of the study was to analyze the prevalence of the autoinflammatory diseases followed by Centers of Pediatric Rheumatology.


A secured web-based questionnaire on the number patients with genetically defined or clinical suspected Autoinflammatory disorders among the centers of Pediatric Rheumatology members of the Pediatric Rheumatology Trial International Organization (PRINTO, was performed.


126 Centers from 38 Countries (94 in Europe, 13 South America, 12 Asia, 5 Australia, 2 Africa) replayed to the survey. Among the patients with a genetic proven disease 73 were affected by TRAPS, 118 by HyperIgD syndrome, 153 by cryopyrinopathies, 71 by PAPA syndrome, 66 patients by Blau's syndrome. A genetically proven FMF was reported in 2484 patients (1947 from countries of the Middle east and north Africa, 537 from other countries). A number of patients with a clinical suspected Autoinflammatory were also reported: 68 with suspected TRAPS, 84 HyperIgD, 57 cryopyrinopathies, 50 PAPA, 60 Blau's syndrome. The ratio between genetically proven vs suspected disease was 1.97 in Western European countries and 0.6 in Countries where the molecular analysis is not available.


A relevant number of patients with genetically defined or clinical suspected Autoinflammatory diseases are followed by different Centers of Pediatric Rheumatology worldwide. A network of registries for the proper collection of data coming from these patients and an improvement of the possibilities for the molecular diagnosis in non-Western European Countries are recommended.

Authors’ Affiliations

UO Pediatria II, Istituto Gaslini and Dipartimento di Pediatria, Università di Genova, Genova, Italy
University Medical Center, Utrecht, Utrecht, Italy
Hacettepe University Faculty of Medicine, Ankara, Turkey
Bambino Gesù Pediatric Hospital, Roma, Italy
Centre Hospitalo-Universitaire de Bicêtre, Le Kremlin Bicêtre, France
Hopital Necker-Enfants Malades, Paris, France
University of Würzburg, Würzburg, Germany
University of Istanbul, Cerrahpaşa Medical Faculty, Istanbul, Turkey
Universitair Ziekenhuis Leuven, Leuven, Belgium
University College London, London, UK
Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Department of Paediatrics, Charles University, Prague, Czech Republic
Department of Rheumatology University Children's Hospital, Ljubljana, Slovenia
Faculty Children's Hospital 1st Department for Children and Adolescents, Kosice, Slovakia


© Gattorno et al; licensee BioMed Central Ltd. 2008

This article is published under license to BioMed Central Ltd.