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Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)
Article first published online: 16 JUN 2004
DOI: 10.1111/j.1365-2249.2004.02537.x
Additional Information
How to Cite
BAKKE, A. C., PURTZER, M. Z. and WILDIN, R. S. (2004), Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX). Clinical & Experimental Immunology, 137: 373–378. doi: 10.1111/j.1365-2249.2004.02537.x
Publication History
- Issue published online: 30 JUN 2004
- Article first published online: 16 JUN 2004
- (Accepted for publication 12 May 2004)
- Abstract
- Article
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Keywords:
- x-linked;
- regulatory T cells;
- immunodeficiency diseases;
- apoptosis;
- flow cytometry
SUMMARY
IPEX syndrome is a genetic autoimmune disease characterized by immune-mediated polyendocrinopathy, enteropathy, and X-linked inheritance. We describe a case of IPEX in which lymphocyte phenotypes were assessed at birth, before initiation of Cyclosporin A therapy, and at frequent intervals to 18 months of age. We performed flow cytometry for lymphocyte subtypes and for activation markers (HLA-DR, CD25, and CD69 or CD71). The ratios of both T to B cells and CD4+ to CD8+ cells were elevated at birth, but CD4+ cells were not activated. HLA-DR+ and CD25+ activated T-cells increased in association with two episodes of clinical deterioration: colitis and the onset of type I diabetes mellitus. These results indicate that measures of activation, particularly HLA-DR+ and CD25+ frequency, correlate well with the development of early active disease and may presage clinical episodes. Continuous maintenance of immunosuppression, once started, appears critical for prevention of permanent tissue damage.