A genetic disorder of lymphocyte apoptosis involving the fas pathway: the autoimmune lymphoproliferative syndrome.
Autoimmune lymphoproliferative syndrome (ALPS) is a recently characterized human disorder that typically presents with lymphocyte accumulation in the first few years of life. This is often associated with the development of autoimmunity, most commonly affecting the hematopoietic system. A key laboratory feature is the marked expansion of double-negative (CD4- and CD8-) T cells that express the alpha/beta T-cell receptor. ALPS is associated with defective Fas-mediated lymphocyte apoptosis, and in most patients, this results from a heterozygous mutation in the TNFRSF6 gene encoding Fas. The clinical features of ALPS reveal the importance of the Fas apoptotic pathway in maintaining lymphocyte homeostasis and protecting against autoimmunity and lymphoid malignancy.
Fleisher
T A
TA
Department of Laboratory Medicine, Warren G. Magnuson Clinical Center and Laboratory of Clinical Investigation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA. tf15t@nih.gov
Straus
S E
SE
Bleesing
J J
JJ
D017209:Apoptosis / Q000276:immunology*; D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D015704:CD4 Antigens; D016827:CD8 Antigens; D006579:Heterozygote; D006706:Homeostasis / Q000276:immunology; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D009154:Mutation; D016693:Receptors, Antigen, T-Cell, alpha-beta; D013601:T-Lymphocytes / Q000276:immunology; D019014:fas Receptor / Q000235:genetics* / Q000502:physiology
D015704:CD4 Antigens; D016827:CD8 Antigens; D016693:Receptors, Antigen, T-Cell, alpha-beta; D019014:fas Receptor