Abstract
Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lack of working regulatory T cells. We review published reports regarding the genetics, clinical features, immunology, pathology, and treatment of IPEX. We also report three new patients who were treated with long term immunosuppression, followed by bone marrow transplantation in two. IPEX can be differentiated from other genetic immune disorders by its genetics, clinical presentation, characteristic pattern of pathology, and, except for high IgE, absence of substantial laboratory evidence of immunodeficiency. While chronic treatment with immunosuppressive drugs may provide temporary benefit for some patients, it does not cause complete remission. Remission has been observed with bone marrow transplantation despite incomplete engraftment, but the long term outcome is uncertain.
Keywords
EnteropathyAutoimmunityMedicineImmunologyImmune dysregulationImmunosuppressionImmunodeficiencyTransplantationImmune systemInternal medicineDisease
MeSH Terms
AdolescentAnimalsAutoimmune DiseasesChildChildPreschoolDiabetes MellitusType 1DiagnosisDifferentialDisease ModelsAnimalHumansLymphoproliferative DisordersMalePolyendocrinopathiesAutoimmuneProtein-Losing EnteropathiesSyndrome
Affiliated Institutions
Related Publications
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different...
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we...
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation
SUMMARY Immune dysregulation, polyendocrinopathy and enteropathy with X-linked inheritance (IPEX) is a serious disease arising from mutations in FOXP3. This gene codifies for a ...
Scurfin (FOXP3) Acts as a Repressor of Transcription and Regulates T Cell Activation
We have recently identified and cloned Foxp3, the gene defective in mice with the scurfy mutation. The immune dysregulation documented in these mice and in humans with mutations...
Clonal Development, Stem-Cell Differentiation, and Clinical Remissions in Acute Nonlymphocytic Leukemia
To determine whether acute nonlymphocytic leukemia develops clonally, to study the pattern of differentiation of the involved stem cells, and to determine whether clinical remis...
Publication Info
- Year
- 2002
- Type
- review
- Volume
- 39
- Issue
- 8
- Pages
- 537-545
- Citations
- 699
- Access
- Closed
External Links
Social Impact
Altmetric
PlumX Metrics
Social media, news, blog, policy document mentions
Citation Metrics
699
OpenAlex
28
Influential
576
CrossRef
Cite This
Robert S. Wildin
(2002).
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
Journal of Medical Genetics
, 39
(8)
, 537-545.
https://doi.org/10.1136/jmg.39.8.537
Identifiers
- DOI
- 10.1136/jmg.39.8.537
- PMID
- 12161590
- PMCID
- PMC1735203