Development of a Rapid Whole Blood Flow Cytometry Procedure for the Diagnosis of X-Linked Hyper-IgM Syndrome Patients and Carriers

The CD40 ligand expressed on activated T cells plays a pivotal role in B cell proliferation and differentiation. Mutations in the CD40 ligand gene, which alter its expression on the surface of activated T cells, are associated with the X-linked form of Hyper-IgM syndrome (XHIM). A rapid and simple,...

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Veröffentlicht in:Clinical immunology and immunopathology 1997-11, Vol.85 (2), p.172-181
Hauptverfasser: O'Gorman, Maurice R.G., Zaas, David, Paniagua, Mary, Corrochano, Virginia, Scholl, Paul R., Pachman, Lauren M.
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Sprache:eng
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Zusammenfassung:The CD40 ligand expressed on activated T cells plays a pivotal role in B cell proliferation and differentiation. Mutations in the CD40 ligand gene, which alter its expression on the surface of activated T cells, are associated with the X-linked form of Hyper-IgM syndrome (XHIM). A rapid and simple, three-color whole blood flow cytometry procedure was developed for maximal expression and detection of the CD40L on the surface ofin vitroactivated CD4+ T cells. Approximately 90% ofin vitroactivated CD4+ T cells obtained from healthy controls expressed the CD40L compared to only 5% ofin vitroactivated CD4+ T cells obtained from the XHIM patients. The CD40L was expressed on approximately 50% of thein vitroactivated CD4+ T cells obtained from the mothers of XHIM patients, consistent with a diagnosis of their carrier status. This is the first report of a whole blood procedure adapted for routine clinical use which is able to detect abnormal CD40L expression in XHIM patients and carriers.
ISSN:0090-1229
1090-2341
DOI:10.1006/clin.1997.4422