title: INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations.
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.
authors.affiliation: Institute of Human Genetics-CNRS UPR 1142, 141, rue de la Cardonille, 34396 Montpellier Cedex 5, France. cyril.sarrauste@igh.cnrs.fr
authors.forename: Cyril
authors.initials: C
authors.lastname: Sarrauste de Menthière
authors.forename: Stéphane
authors.initials: S
authors.lastname: Terrière
authors.forename: Denis
authors.initials: D
authors.lastname: Pugnère
authors.forename: Manuel
authors.initials: M
authors.lastname: Ruiz
authors.forename: Jacques
authors.initials: J
authors.lastname: Demaille
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
mesh_terms: D003625:Data Collection; D030541:Databases, Genetic; D010505:Familial Mediterranean Fever / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007249:Inflammation / Q000235:genetics*; D016247:Information Storage and Retrieval; D020407:Internet; D009154:Mutation; D011786:Quality Control; D012042:Registries / Q000592:standards; D012984:Software