title: Translational research network and patient registry for auto-inflammatory diseases.
abstract: OBJECTIVE
  Auto-inflammatory diseases (AIDs) are characterized by recurrent self-limiting systemic inflammation. In a multicentre effort, we set out to register genetic, epidemiological and clinical features as well as prognostic factors of these diseases by prospective longitudinal and long-term documentation, in order to define novel AIDs and to better understand treatment responses and outcome.
  
  
  METHODS
  In 2009, a federally funded clinical and research consortium (AID-Net) was established, including an online registry for AIDs (http://www.aid-register.uk-essen.de). Inclusion criteria are disease-associated mutations for hereditary periodic fever syndromes [FMF, hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), TNF receptor 1-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS)], or, alternatively, clinically confirmed AID, systemic-onset JIA (SoJIA) and periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome with unknown genetic background. Patients were recruited to the registry and patient material was deposited in biomaterial banks (DNA/serum). In addition, basic research projects were initiated that focus on molecular mechanisms of AID.
  
  
  RESULTS
  During the first 9 months, 117 patients (65 males, 52 females; age 1-21 years) have been recorded and classified as FMF (n=84), HIDS (n=1), TRAPS (n=3) and CAPS (n=1); clinically confirmed AID (n=5); SoJIA (n=22); and PFAPA (n=1). One hundred and fifty blood samples of 18 patients were included in biomaterial banks.
  
  
  CONCLUSIONS
  Recruitment and follow-up of patients with AID will enable us to comprehensively address the correlation between clinical and epidemiological data, genetics and biomarkers. The translational approach may help to identify genetic or inflammatory markers relevant for the course and outcome of diseases.
authors.affiliation: Department of Paediatric Rheumatology, Children's Hospital, University Duisburg-Essen, Essen, Germany. elke.lainka@uni-due.de
authors.forename: Elke
authors.initials: E
authors.lastname: Lainka
authors.forename: Maria
authors.initials: M
authors.lastname: Bielak
authors.forename: Volker
authors.initials: V
authors.lastname: Hilger
authors.forename: Oliver
authors.initials: O
authors.lastname: Basu
authors.forename: Ulrich
authors.initials: U
authors.lastname: Neudorf
authors.forename: Helmut
authors.initials: H
authors.lastname: Wittkowski
authors.forename: Dirk
authors.initials: D
authors.lastname: Holzinger
authors.forename: Johannes
authors.initials: J
authors.lastname: Roth
authors.forename: Tim
authors.initials: T
authors.lastname: Niehues
authors.forename: Dirk
authors.initials: D
authors.lastname: Foell
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D005260:Female; D005858:Germany; D056660:Hereditary Autoinflammatory Diseases / Q000145:classification* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation / Q000235:genetics; D012042:Registries; D013223:Statistics as Topic; D057170:Translational Research, Biomedical; D055815:Young Adult