Pathogenesis and diagnosis of X-linked lymphoproliferative disease

Expert Rev Mol Diagn. 2003 Sep;3(5):549-61. doi: 10.1586/14737159.3.5.549.

Abstract

X-linked lymphoproliferative syndrome (XLP) is a rare, often fatal, primary immunodeficiency that has profound and damaging effects on the immune system of affected individuals. It is characterized by a dysregulated immune response, most commonly to Epstein-Barr viral infection. The defective gene in this syndrome has been identified as SAP-SLAM (signaling lymphocyte activation molecule)-associated protein. It is an adapter molecule that is required for appropriate function of the SLAM-related receptors. There is now a greater understanding of the molecular associations and cellular pathogenesis of SAP and this review will summarize the most recent findings. Clinically, XLP may be difficult to diagnose as a result of its varied clinical phenotype, and protein and genetic assays are currently used to make a definitive diagnosis. With the advances in gene analysis and genomics technology, it is likely that better and more rapid diagnostic techniques will become available.

Publication types

  • Review

MeSH terms

  • Agammaglobulinemia / physiopathology
  • Animals
  • Antigens, CD
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Glycoproteins / genetics
  • Glycoproteins / metabolism*
  • Humans
  • Immunoglobulins / genetics
  • Immunoglobulins / metabolism*
  • Intracellular Signaling Peptides and Proteins*
  • Lymphocyte Activation
  • Lymphoma / physiopathology
  • Lymphoproliferative Disorders / diagnosis*
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / physiopathology*
  • Phenotype
  • Receptors, Antigen, T-Cell / metabolism
  • Receptors, Cell Surface
  • Signal Transduction
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Signaling Lymphocytic Activation Molecule Family Member 1
  • src Homology Domains

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