The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
OBJECTIVE
This article presents a comprehensive review of the immunodysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome, covering both the clinical and molecular aspects of the disease. (Figure is included in full-text article.)


RESULTS
The IPEX syndrome is a rare immunological disorder in humans caused by inheritable mutations in the FOXP3 gene, the master transcriptional regulator for the development and function of CD4 regulatory T (Treg) cells. Forkhead box protein 3 (FOXP3) Treg cells represent a unique T-cell lineage with inhibitory functions, and are responsible for immune homeostasis and tolerance to self and nonself antigens. Evidence shows that a Treg developmental deficiency or dysfunction underlies the severe, multiorgan, autoimmune disease of IPEX.


CONCLUSIONS
An in-depth structural and functional analysis of the molecular domains of FOXP3 is essential for our understanding of the observed clinical heterogeneity and prognosis in IPEX.
aDepartment of Microbiology and Immunology, FOCIS Centre of Excellence, McGill University, Research Institute of the McGill University Health Centre bProgram in Infectious Diseases and Immunology in Global Health, the Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
Khalid
K
Bin Dhuban
Ciriaco A
CA
Piccirillo
D000818:Animals; D002454:Cell Differentiation; D019070:Cell Lineage; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital* / Q000235:genetics / Q000276:immunology; D003967:Diarrhea / Q000235:genetics / Q000276:immunology*; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism*; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000276:immunology*; D006706:Homeostasis; D006801:Humans; D007154:Immune System Diseases / Q000151:congenital* / Q000235:genetics / Q000276:immunology; D009154:Mutation / Q000235:genetics; D017634:Self Tolerance; D050378:T-Lymphocytes, Regulatory / Q000276:immunology*
C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors