Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers.

Published

Journal Article

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 of in vitro activated CD4+ T cells. Approximately 90% of in vitro activated CD4+ T cells obtained from healthy controls expressed the CD40L compared to only 5% of in vitro activated CD4+ T cells obtained from the XHIM patients. The CD40L was expressed on approximately 50% of the in vitro activated 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.

Full Text

Cited Authors

  • O'Gorman, MR; Zaas, D; Paniagua, M; Corrochano, V; Scholl, PR; Pachman, LM

Published Date

  • November 1997

Published In

Volume / Issue

  • 85 / 2

Start / End Page

  • 172 - 181

PubMed ID

  • 9344700

Pubmed Central ID

  • 9344700

International Standard Serial Number (ISSN)

  • 0090-1229

Digital Object Identifier (DOI)

  • 10.1006/clin.1997.4422

Language

  • eng