The abnormal gene in X-linked lymphoproliferative syndrome

Curr Opin Immunol. 1999 Aug;11(4):431-4. doi: 10.1016/S0952-7915(99)80072-7.


The gene defect responsible for X-linked lymphoproliferative syndrome, SH2D1A (SH2-domain-containing gene 1A), was recently cloned. This gene encodes a small protein of 128 amino acids containing a single SH2 domain, which is thought to play an important role in signal transduction in activated T cells. The definition of SH2D1A protein function will provide insight into the pathogenesis of fatal Epstein-Barr virus infection, lymphomas, Hodgkins disease, immunodeficiency, aplastic anemia and lymphohistiocytic disorders that characterize the syndrome.

Publication types

  • Review

MeSH terms

  • Carrier Proteins / genetics*
  • Cloning, Molecular
  • Genetic Linkage*
  • Humans
  • Intracellular Signaling Peptides and Proteins*
  • Lymphoproliferative Disorders / genetics*
  • Mutation
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • X Chromosome*
  • src Homology Domains*


  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • SH2D1A protein, human
  • Signaling Lymphocytic Activation Molecule Associated Protein