Absence of platelet CD40L identifies patients with X-linked hyper IgM syndrome

Clin Exp Immunol. 2000 Jun;120(3):499-502. doi: 10.1046/j.1365-2249.2000.01235.x.

Abstract

CD40 ligand (CD40L), a membrane protein expressed on activated T cells, plays a pivotal role in B cell proliferation and differentiation. Mutations in the CD40L gene are associated with a rare immunodeficiency state, X-linked hyper IgM syndrome (XLHIGM). Recently, platelets have been described as capable of expressing CD40L within minutes of stimulation. We have developed a rapid technique to determine expression of CD40L on activated platelets by flow cytometry in whole blood. We have demonstrated that this technique is useful in neonatal screening, in rapid diagnosis and in determining reconstitution by donor bone marrow post-transplantation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blood Platelets / immunology*
  • Bone Marrow Transplantation / immunology
  • CD40 Ligand
  • Cell Separation
  • Flow Cytometry
  • Humans
  • Hypergammaglobulinemia / immunology*
  • Immunoglobulin M / immunology*
  • Membrane Glycoproteins / biosynthesis*
  • Mice
  • Neonatal Screening
  • P-Selectin / biosynthesis
  • P-Selectin / immunology

Substances

  • Immunoglobulin M
  • Membrane Glycoproteins
  • P-Selectin
  • CD40 Ligand