The autoimmune lymphoproliferative syndrome: an experiment of nature involving lymphocyte apoptosis.
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.
Fleisher
Thomas A
TA
Clinical Center, NIH, DHHS, Bethesda, MD 20892-1508, USA. TFleisher@cc.nih.gov
D000483:Alleles; D000818:Animals; D017209:Apoptosis / Q000235:genetics / Q000276:immunology*; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D053455:Caspase 10 / Q000235:genetics; D053222:Fas Ligand Protein / Q000235:genetics; D005260:Female; D006706:Homeostasis / Q000276:immunology; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D008297:Male; D051379:Mice; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D013601:T-Lymphocytes / Q000276:immunology* / Q000378:metabolism / Q000473:pathology; D019014:fas Receptor / Q000235:genetics
D053222:Fas Ligand Protein; D019014:fas Receptor; D053455:Caspase 10