INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

Nucleic Acids Res. 2003 Jan 1;31(1):282-5. doi: 10.1093/nar/gkg031.

Abstract

We have established the INFEVERS--INternet periodic FEVERS--website (which is freely accessible at http://fmf.igh.cnrs.fr/infevers/). Our objectives were to develop a specialist site to gather updated information on mutations responsible for hereditary inflammatory disorders: i.e. Familial Mediterranean Fever (FMF), TRAPS (TNF Receptor 1A Associated Syndrome), HIDS (HyperIgD Syndrome), MWS (Muckle-Wells Syndrome)/FCU (Familial Cold Urticaria)/CINCA (Chronic Infantile Neurological Cutaneous and Articular Syndrome). Contributors submit their novel mutations through a 3 step form. Depending on the disease concerned, a member of the editorial board is automatically solicited to overview and validate new submissions, via a special secured web interface. If accepted, the new mutation is available on the INFEVERS web site and the discoverer, who is informed by email, is credited by having his/her name and date of the discovery on the site. The INFEVERS gateway provides researchers and clinicians with a common access location for information on similar diseases, allowing a rapid overview of the corresponding genetic defects at a glance. Furthermore, it is interactive and extendable according to the latest genes discovered.

MeSH terms

  • Data Collection
  • Databases, Genetic*
  • Familial Mediterranean Fever / genetics*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / immunology
  • Humans
  • Inflammation / genetics*
  • Information Storage and Retrieval
  • Internet
  • Mutation*
  • Quality Control
  • Registries* / standards
  • Software