Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX).
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.
Department of Pathology, Oregan Health & Science University, Portland, OR, USA. bakkea@ohsu.edu
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Bakke
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Purtzer
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Wildin
D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000276:immunology*; D006801:Humans; D016130:Immunophenotyping; D007231:Infant, Newborn; D008213:Lymphocyte Activation / Q000276:immunology; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000276:immunology*; D011504:Protein-Losing Enteropathies / Q000276:immunology*; D013577:Syndrome; D016176:T-Lymphocyte Subsets / Q000276:immunology