Title: An International registry on Autoinflammatory diseases: the Eurofever experience
Authors: Toplak, Natasa ×
Frenkel, Joost
Ozen, Seza
Lachmann, Helen J
Woo, Patricia
Koné-Paut, Isabelle
De Benedetti, Fabrizio
Neven, Benedicte
Hofer, Michael
Dolezalova, Pavla
Kümmerle-Deschner, Jasmin
Touitou, Isabelle
Hentgen, Veronique
Simon, Anna
Girschick, Herman
Rose, Carlos
Wouters, Carine
Vesely, Richard
Arostegui, Juan
Stojanov, Silvia
Ozgodan, Huri
Martini, Alberto
Ruperto, Nicolino
Gattorno, Marco #
Issue Date: Jul-2012
Publisher: H.K. Lewis
Series Title: Annals of the Rheumatic Diseases vol:71 issue:7 pages:1177-1182
Abstract: OBJECTIVE: To report on the demographic data from the first 18 months of enrollment to an international registry on autoinflammatory diseases in the context of the Eurofever project.METHODS: A web-based registry collecting baseline and clinical information on autoinflammatory diseases and related conditions is available in the member area of the PRINTO web-site. Anonymised data were collected with standardised forms.RESULTS: 1880 (M:F=916:964) individuals from 67 centers in 31 countries have been entered in the Eurofever registry. Most of the patients (1388; 74%), reside in western Europe, 294 (16%) in the eastern and southern Mediterranean region (Turkey, Israel, North Africa), 106 (6%) in eastern Europe, 54 in Asia, 27 in South America and 11 in Australia. In total 1049 patients with a clinical diagnosis of a monogenic autoinflammatory diseases have been enrolled; genetic analysis was performed in 993 patients (95%): 703 patients have genetically confirmed disease and 197 patients are heterozygous carriers of mutations in genes that are mutated in patients with recessively inherited autoinflammatory diseases. The median diagnosis delay was 7.3 years (range 0.3-76), with a clear reduction in patients born after the identification of the first gene associated with autoinflammatory diseases in 1997.CONCLUSIONS: A shared online registry for patients with autoinflammatory diseases is available and enrollment is ongoing. Currently, there are data available for analysis on clinical presentation, disease course, and response to treatment, and to perform large scale comparative studies between different conditions.
ISSN: 0003-4967
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Pediatric Immunology
× corresponding author
# (joint) last author

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