IngentaConnect Prospective immunological profiling in a case of immune dysregula...

Authors: A. C. BAKKE; M. Z. PURTZER¹; R. S. WILDIN

Source: Clinical & Experimental Immunology, Volume 137, Number 2, August 2004 , pp. 373-378(6)

Abstract:

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.

Keywords: x-linked; regulatory T cells; immunodeficiency diseases; apoptosis; flow cytometry

Document Type: Research article

DOI: 10.1111/j.1365-2249.2004.02537.x

Affiliations: 1: Departments of Pathology

You have access to the full text article on a website external to Ingentaconnect.

Please click here to view this article on InterScience.

You may be required to register and activate access on InterScience before you can obtain the full text. If you have any queries please contact onlinehelp@oxon.blackwellpublishing.com

Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)