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Related Experiment Videos

Infevers: an evolving mutation database for auto-inflammatory syndromes.

Isabelle Touitou1, Suzanne Lesage, Michael McDermott

  • 1Hopital A de Villeneuve, Laboratoire de Genetique, Montpellier, France. Isabelle.touitou@igh.cnrs.fr

Human Mutation
|August 10, 2004
PubMed
Summary
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The Infevers database centralizes genetic variants for periodic fever syndromes like Familial Mediterranean Fever (FMF) and other autoinflammatory diseases. It now includes new entries and 291 variants, aiding research into innate immune response defects.

Area of Science:

  • Genetics
  • Immunology
  • Bioinformatics

Background:

  • Periodic fever syndromes are a group of autoinflammatory diseases.
  • Familial Mediterranean Fever (FMF) is a prototype of these disorders.
  • Autoinflammatory diseases result from defects in the innate immune response.

Purpose of the Study:

  • To present the biological content of the Infevers database.
  • To announce the extension of the database to include genes linked to autoinflammatory diseases.
  • To introduce new entries for Crohn/Blau and Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.

Main Methods:

  • The Infevers database was established in 2002.
  • It aggregates sequence variant information for periodic fevers.

Related Experiment Videos

  • The database was extended to include genes associated with autoinflammatory diseases.

    • Main Results:

    • The database currently contains 291 sequence variants in related genes (MEFV, TNFRSF1A, MVK, CARD15, PSTPIP1, and CIAS1).
    • Data includes published findings and personal communications.
    • Preferential mutational sites for each gene have been identified or refined.

    Conclusions:

    • The Infevers database serves as a central resource for genetic variants in periodic fevers and autoinflammatory diseases.
    • The database provides valuable information for investigators studying these conditions.
    • The database will continue to evolve in content and presentation.