The autoimmune lymphoproliferative syndrome: an experiment of nature involving lymphocyte apoptosis

Immunol Res. 2008;40(1):87-92. doi: 10.1007/s12026-007-8001-1.

Abstract

Autoimmune lymphproliferative syndrome (ALPS) is a human disorder that has been characterized in the past two decades at both a functional and a genetic level. The underlying basis for this disorder is a defect in lymphocyte apoptosis that alters immune homeostasis resulting in an expansion of a normally rare circulating lymphocyte, the alpha beta double negative T cell. The abnormality in Fas mediated apoptosis underlying ALPS serves as a risk factor for autoimmunity involving blood cells and the development of lymphoma. There remain patients with a diagnosis of ALPS but without a defined genetic defect and current investigations are focusing on fully characterizing this patient subgroup.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Alleles
  • Animals
  • Apoptosis / genetics
  • Apoptosis / immunology*
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology*
  • Autoimmune Diseases / pathology
  • Caspase 10 / genetics
  • Fas Ligand Protein / genetics
  • Female
  • Homeostasis / immunology
  • Humans
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / immunology*
  • Lymphoproliferative Disorders / pathology
  • Male
  • Mice
  • Mutation
  • Pedigree
  • Syndrome
  • T-Lymphocytes / immunology*
  • T-Lymphocytes / metabolism
  • T-Lymphocytes / pathology
  • fas Receptor / genetics

Substances

  • Fas Ligand Protein
  • fas Receptor
  • Caspase 10