The gene defective in X-linked lymphoproliferative disease controls T cell dependent immune surveillance against Epstein-Barr virus

Curr Opin Immunol. 2000 Aug;12(4):474-8. doi: 10.1016/s0952-7915(00)00123-0.

Abstract

Our understanding of the X-linked lymphoproliferative syndrome (XLP) has advanced significantly in the past two years. The gene that is aberrant in the condition - SH2D1A/SAP, which encodes SAP (signaling lymphocytic activation molecule [SLAM]-associated protein) - was cloned, the crystal structure of its product was solved and insights into the signaling mechanisms of this small SH2-domain-containing protein via the cell surface receptors SLAM and 2B4 have been provided. SAP mutation, and not Epstein-Barr virus infection per se, may be critical for XLP.

Publication types

  • Review

MeSH terms

  • Antigens, CD
  • Carrier Proteins / genetics*
  • Carrier Proteins / immunology*
  • Cloning, Molecular
  • Gene Deletion*
  • Glycoproteins / immunology
  • Herpesvirus 4, Human / immunology*
  • Humans
  • Immunoglobulins / immunology
  • Intracellular Signaling Peptides and Proteins*
  • Lymphoproliferative Disorders / genetics*
  • Lymphoproliferative Disorders / immunology*
  • Lymphoproliferative Disorders / virology
  • Receptors, Antigen, T-Cell / immunology
  • Receptors, Cell Surface
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Signaling Lymphocytic Activation Molecule Family Member 1
  • T-Lymphocytes / immunology*

Substances

  • Antigens, CD
  • Carrier Proteins
  • Glycoproteins
  • Immunoglobulins
  • Intracellular Signaling Peptides and Proteins
  • Receptors, Antigen, T-Cell
  • Receptors, Cell Surface
  • SH2D1A protein, human
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Signaling Lymphocytic Activation Molecule Family Member 1