Lessons on immune tolerance from the monogenic disease APS1

Curr Opin Genet Dev. 2007 Jun;17(3):193-200. doi: 10.1016/j.gde.2007.04.001. Epub 2007 Apr 26.

Abstract

Autoimmunity is a complex disease process that results from a breakdown in the ability of the immune system to discriminate self from non-self. One approach to unraveling how autoimmunity occurs is to study monogenic diseases, for which a single gene defect is responsible. Recent work on the monogenic autoimmune disease 'autoimmune polyglandular syndrome type 1' (APS1) and on the causal gene of this disorder--autoimmune regulator (AIRE)--is providing new lessons on how immune tolerance is maintained.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • AIRE Protein
  • Animals
  • Gene Expression Regulation
  • Humans
  • Immune Tolerance / genetics*
  • Immune Tolerance / immunology*
  • Phenotype
  • Polyendocrinopathies, Autoimmune / genetics*
  • Polyendocrinopathies, Autoimmune / immunology*
  • Polyendocrinopathies, Autoimmune / metabolism
  • Polyendocrinopathies, Autoimmune / pathology
  • Transcription Factors / genetics

Substances

  • Transcription Factors