Infevers: An evolving mutation database for auto-inflammatory syndromes

Isabelle Touitou, Suzanne Lesage, Michael McDermott, Laurence Cuisset, Hal Hoffman, Catherine Dode, Nitza Shoham, Ebun Aganna, Jean Pierre Hugot, Carol Wise, Hans Waterham, Denis Pugnere, Jacques Demaille, Cyril Sarrauste De Menthiere

Research output: Contribution to journalArticlepeer-review

209 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)194-198
Number of pages5
JournalHuman mutation
Volume24
Issue number3
DOIs
StatePublished - Jul 26 2004

Keywords

  • Autoinflammatory disease
  • CARD15
  • CIAS1
  • Database
  • MEFV
  • MVK
  • PSTPIP1
  • TNFRSF1A

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Infevers: An evolving mutation database for auto-inflammatory syndromes'. Together they form a unique fingerprint.

Cite this