Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

J Exp Med. 2005 Mar 7;201(5):695-701. doi: 10.1084/jem.20042432. Epub 2005 Feb 28.

Abstract

SAP is an adaptor protein expressed in T cells and natural killer cells. It plays a critical role in immunity, as it is mutated in humans with X-linked lymphoproliferative syndrome (XLP), a fatal immunodeficiency characterized by an abnormal response to Epstein-Barr virus (EBV) infection. SAP interacts with the SLAM family receptors and promotes transduction signal events by these receptors through its capacity to recruit and activate the Src kinase FynT. Because it has been previously established that FynT is selectively required for the development of NKT cells, we examined NKT cells in SAP-deficient mice and in humans with XLP. In the absence of SAP, the development of NKT cells is severely impaired both in mice and in humans. These results imply that SAP is a potent regulator of NKT cell development. They also identify for the first time a defect in NKT cells associated with a human primary immunodeficiency, revealing a potential role of NKT cells in the immune response to EBV.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Differentiation*
  • Cells, Cultured
  • Galactosylceramides / pharmacology
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / deficiency*
  • Intracellular Signaling Peptides and Proteins / genetics
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Killer Cells, Natural / cytology*
  • Killer Cells, Natural / drug effects
  • Killer Cells, Natural / metabolism
  • Lymphoproliferative Disorders / genetics*
  • Mice
  • Mice, Knockout
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • T-Lymphocyte Subsets / cytology*
  • T-Lymphocyte Subsets / drug effects
  • T-Lymphocyte Subsets / metabolism*
  • Time Factors

Substances

  • Galactosylceramides
  • Intracellular Signaling Peptides and Proteins
  • SH2D1A protein, human
  • Sh2d1a protein, mouse
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • alpha-galactosylceramide