Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED

J Clin Immunol. 2008 May;28 Suppl 1:S11-9. doi: 10.1007/s10875-008-9176-5. Epub 2008 Feb 9.

Abstract

Background: Several primary immune deficiency disorders are associated with autoimmunity and malignancy, suggesting a state of immune dysregulation. The concept of immune dysregulation as a direct cause of autoimmunity in primary immune deficiency disorders (PIDDs) has been strengthened by the recent discovery of distinct clinical entities linked to single-gene defects resulting in multiple autoimmune phenomena including immune dysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome, and autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) syndrome.

Conclusion: Reviewing recent advances in our understanding of the small subgroup of PIDD patients with defined causes for autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases.

Publication types

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

MeSH terms

  • Animals
  • Autoantigens / immunology
  • Autoimmunity / genetics
  • Candida albicans*
  • Candidiasis, Chronic Mucocutaneous / immunology
  • Disease Susceptibility / immunology
  • Disease Susceptibility / microbiology
  • Forkhead Transcription Factors / genetics
  • Forkhead Transcription Factors / immunology
  • Forkhead Transcription Factors / metabolism
  • Humans
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / microbiology
  • Immunologic Deficiency Syndromes / physiopathology*
  • Mice
  • Polyendocrinopathies, Autoimmune / complications
  • Polyendocrinopathies, Autoimmune / genetics*
  • Polyendocrinopathies, Autoimmune / microbiology
  • Polyendocrinopathies, Autoimmune / physiopathology*
  • Polymorphism, Genetic
  • Self Tolerance
  • T-Lymphocytes, Regulatory / cytology
  • T-Lymphocytes, Regulatory / metabolism
  • T-Lymphocytes, Regulatory / physiology
  • Transcription Factors / genetics
  • Transcription Factors / immunology
  • Transcription Factors / metabolism

Substances

  • APECED protein
  • Autoantigens
  • FOXP3 protein, human
  • Forkhead Transcription Factors
  • Transcription Factors