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Curr Opin Pediatr. 2013 Dec;25(6):708-14. doi: 10.1097/MOP.0000000000000029.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.

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1
aDepartment of Pediatrics, Division of Rheumatology, Medical College of Wisconsin, Milwaukee, Wisconsin bDepartment of Pediatrics, Division of Immunology, The Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Abstract

PURPOSE OF REVIEW:

To summarize recent progress in our understanding of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders.

RECENT FINDINGS:

A number of Mendelian disorders of immune dysregulation and autoimmunity have been noted to result from defects in T regulatory cell, development and function. The best characterized of these is IPEX, resulting from mutations affecting FOXP3. A number of other gene defects that affect T regulatory cell function also give rise to IPEX-related phenotypes, including loss-of-function mutations in CD25, STAT5b and ITCH. Recent progress includes the identification of gain-of-function mutations in STAT1 as a cause of an IPEX-like disease, emerging FOXP3 genotype/phenotype relationships in IPEX, and the elucidation of a role for the microbiota in the immune dysregulation associated with regulatory T cell deficiency.

SUMMARY:

An expanding spectrum of genetic defects that compromise T regulatory cell function underlies human disorders of immune dysregulation and autoimmunity. Collectively, these disorders offer novel insights into pathways of peripheral tolerance and their disruption in autoimmunity.

PMID:
24240290
PMCID:
PMC4047515
DOI:
10.1097/MOP.0000000000000029
[Indexed for MEDLINE]
Free PMC Article

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