Infevers: An evolving mutation database for auto-inflammatory syndromes

TLDR

Infevers, established in 2002, is a central repository for sequence variants of periodic fevers such as FMF, TRAPS, HIDS, and FCAS/MWS/CINCA, positioning FMF as the prototype of a broader class of autoinflammatory disorders driven by innate immune defects. The authors expanded Infevers to include genes linked to autoinflammatory diseases, adding new entries for Crohn/Blau and PAPA syndrome, and plan to continue evolving its content and presentation. Infevers offers flexible query capabilities and currently houses 291 variants across key genes (MEFV, TNFRSF1A, MVK, CARD15, PSTPIP1, CIAS1), integrating published and personal data to refine mutational hotspots. Published in Hum Mutations 24:194–198 (2004) and © 2004 Wiley‑Liss, Inc.

Abstract

The Infevers database (http://fmf.igh.cnrs.fr/infevers/) was established in 2002 to provide investigators with access to a central source of information about all sequence variants associated with periodic fevers: Familial Mediterranean fever (FMF), TNF Receptor Associated Periodic Syndrome (TRAPS), Hyper IgD Syndrome (HIDS), Familial Cold Autoinflammatory Syndrome/Muckle-Wells Syndrome/Chronic Infantile Neurological Cutaneous and Articular Syndrome (FCAS/MWS/CINCA). The prototype of this group of disorders is FMF, a recessive disease characterized by recurrent bouts of unexplained inflammation. FMF is the pivotal member of an expanding family of autoinflammatory disorders, a new term coined to describe illnesses resulting from a defect of the innate immune response. Therefore, we decided to extend the Infevers database to genes connected with autoinflammatory diseases. We present here the biological content of the Infevers database, including the introduction of two new entries: Crohn/Blau and Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA syndrome). Infevers has a range of query capabilities, allowing for simple or complex interrogation of the database. Currently, the database contains 291 sequence variants in related genes (MEFV, TNFRSF1A, MVK, CARD15, PSTPIP1, and CIAS1), consisting of published data and personal communications, which has revealed or refined the preferential mutational sites for each gene. This database will continue to evolve in its content and to improve in its presentation. Hum Mutat 24:194–198, 2004. © 2004 Wiley-Liss, Inc.