Host Response to EBV Infection in X-linked Lymphoproliferative Disease Results From Mutations in an SH2-domain Encoding Gene

Nat Genet. 1998 Oct;20(2):129-35. doi: 10.1038/2424.

Abstract

X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antigens, CD
  • B-Lymphocytes / immunology
  • B-Lymphocytes / virology
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Cloning, Molecular
  • Female
  • Genetic Linkage
  • Glycoproteins / metabolism
  • Herpesviridae Infections / complications*
  • Herpesviridae Infections / immunology
  • Herpesviridae Infections / virology
  • Herpesvirus 4, Human*
  • Humans
  • Immunoglobulins / metabolism
  • Intracellular Signaling Peptides and Proteins*
  • Lymphoproliferative Disorders / complications
  • Lymphoproliferative Disorders / genetics*
  • Lymphoproliferative Disorders / immunology
  • Lymphoproliferative Disorders / virology
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Receptors, Cell Surface
  • Sequence Alignment
  • Sequence Deletion
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Signaling Lymphocytic Activation Molecule Family Member 1
  • T-Lymphocytes / immunology
  • T-Lymphocytes / virology
  • X Chromosome
  • src Homology Domains / genetics*

Substances

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

Associated data

  • GENBANK/AL023657