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.
Bakke
A C
AC
Department of Pathology, Oregan Health & Science University, Portland, OR, USA. bakkea@ohsu.edu
Purtzer
M Z
MZ
Wildin
R S
RS
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