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Review
The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
  1. Eva d'Hennezel1,2,
  2. Khalid Bin Dhuban1,2,
  3. Troy Torgerson3,
  4. Ciriaco Piccirillo1,2
  1. 1Department of Microbiology and Immunology, McGill University, Montréal, Quebec, Canada
  2. 2FOCIS Centre of Excellence, Research Institute of the McGill University Health Centre, Montréal, Quebec, Canada
  3. 3Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
  1. Correspondence to Dr Ciriaco Piccirillo, Research Institute of the McGill University Health Centre, Montréal General Hospital, 1650 Cedar Avenue, Room L11.132, Montréal, QC H3G 1A4, Canada; ciro.piccirillo{at}mcgill.ca

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome is a rare disorder in humans caused by germ-line mutations in the FOXP3 gene, a master transcriptional regulator for the development of CD4 regulatory T (Treg) cells. This T cell subset has global inhibitory functions that maintain immune homeostasis and mediate self-tolerance. Treg developmental deficiency or dysfunction is a hallmark of IPEX. It leads to severe, multi-organ, autoimmune phenomena including enteropathy, chronic dermatitis, endocrinopathy and other organ-specific diseases such as anaemia, thrombocytopenia, hepatitis and nephritis. In this review, the genetic, immunological and clinical characteristics of IPEX syndrome are described, and the impact of heritable mutations on the function of Treg cells highlighted.

  • Immunology (including allergy)
  • genetics

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Footnotes

  • EH and KBD contributed equally to this work.

  • Funding This work was supported by CIHR grant MOP67211 (CP) and CIHR grant MOP84041 (CP) from the New Emerging Team in Clinical Autoimmunity: Immune Regulation and Biomarker Development in Pediatric and Adult Onset Autoimmune Diseases. CAP holds a Canada Research Chair.

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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