Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases. Curr Opin Pediatr 2013 Dec;25(6):708-14
Date
11/19/2013Pubmed ID
24240290Pubmed Central ID
PMC4047515DOI
10.1097/MOP.0000000000000029Scopus ID
2-s2.0-84888115370 (requires institutional sign-in at Scopus site) 141 CitationsAbstract
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.
Author List
Verbsky JW, Chatila TAAuthor
James Verbsky MD, PhD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AutoantibodiesAutoimmunity
Diabetes Mellitus, Type 1
Diarrhea
Female
Forkhead Transcription Factors
Genetic Diseases, X-Linked
Genetic Predisposition to Disease
Humans
Immune System Diseases
Immunologic Deficiency Syndromes
Interleukin-2 Receptor alpha Subunit
Intestinal Diseases
Male
Mutation
Polyendocrinopathies, Autoimmune
Repressor Proteins
STAT5 Transcription Factor
T-Lymphocytes, Regulatory
Ubiquitin-Protein Ligases
