title: An international registry on autoinflammatory diseases: the Eurofever experience.
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.
authors.affiliation: 1Department of Paediatrics, Division of Allergology, Rheumatology and Clinical Immunology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
authors.forename: Natasa
authors.initials: N
authors.lastname: Toplak
authors.forename: Joost
authors.initials: J
authors.lastname: Frenkel
authors.forename: Seza
authors.initials: S
authors.lastname: Ozen
authors.forename: Helen J
authors.initials: HJ
authors.lastname: Lachmann
authors.forename: Patricia
authors.initials: P
authors.lastname: Woo
authors.forename: Isabelle
authors.initials: I
authors.lastname: Koné-Paut
authors.forename: Fabrizio
authors.initials: F
authors.lastname: De Benedetti
authors.forename: Benedicte
authors.initials: B
authors.lastname: Neven
authors.forename: Michael
authors.initials: M
authors.lastname: Hofer
authors.forename: Pavla
authors.initials: P
authors.lastname: Dolezalova
authors.forename: Jasmin
authors.initials: J
authors.lastname: Kümmerle-Deschner
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
authors.forename: Veronique
authors.initials: V
authors.lastname: Hentgen
authors.forename: Anna
authors.initials: A
authors.lastname: Simon
authors.forename: Herman
authors.initials: H
authors.lastname: Girschick
authors.forename: Carlos
authors.initials: C
authors.lastname: Rose
authors.forename: Carine
authors.initials: C
authors.lastname: Wouters
authors.forename: Richard
authors.initials: R
authors.lastname: Vesely
authors.forename: Juan
authors.initials: J
authors.lastname: Arostegui
authors.forename: Silvia
authors.initials: S
authors.lastname: Stojanov
authors.forename: Huri
authors.initials: H
authors.lastname: Ozgodan
authors.forename: Alberto
authors.initials: A
authors.lastname: Martini
authors.forename: Nicolino
authors.initials: N
authors.lastname: Ruperto
authors.forename: Marco
authors.initials: M
authors.lastname: Gattorno
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001528:Behcet Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D003710:Demography; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D014943:Global Health; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007391:International Cooperation; D020407:Internet; D008297:Male; D008875:Middle Aged; D012042:Registries; D055815:Young Adult