Communicated by A. Jamie Cuticchia
Infevers: An evolving mutation database for auto-inflammatory syndromes†
Article first published online: 27 JUL 2004
Copyright © 2004 Wiley-Liss, Inc.
Volume 24, Issue 3, pages 194–198, September 2004
How to Cite
Touitou, I., Lesage, S., McDermott, M., Cuisset, L., Hoffman, H., Dode, C., Shoham, N., Aganna, E., Hugot, J.-P., Wise, C., Waterham, H., Pugnere, D., Demaille, J. and de Menthiere, C. S. (2004), Infevers: An evolving mutation database for auto-inflammatory syndromes. Hum. Mutat., 24: 194–198. doi: 10.1002/humu.20080
- Issue published online: 27 JUL 2004
- Article first published online: 27 JUL 2004
- Manuscript Received: 22 OCT 2004
- Manuscript Accepted: 14 APR 2004
- autoinflammatory disease
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.