Genetic disorders of programmed cell death in the immune system.
Human genetics offers new possibilities for understanding physiological regulatory mechanisms and disorders of the immune system. Genetic abnormalities of lymphocyte cell death programs have provided insights into mechanisms of receptor biology and principles of immune homeostasis and tolerance. Thus far, there are two major diseases of programmed cell death associated with inherited human mutations: the autoimmune lymphoproliferative syndrome and the caspase-eight deficiency state. We describe the details of their molecular pathogenesis and discuss how these diseases illustrate important concepts in immune regulation and genetics.
Bidère
Nicolas
N
Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.
Su
Helen C
HC
Lenardo
Michael J
MJ
D017209:Apoptosis / Q000235:genetics* / Q000276:immunology*; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D053455:Caspase 10; D053181:Caspase 8; D020169:Caspases / Q000172:deficiency / Q000235:genetics / Q000276:immunology; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000145:classification / Q000235:genetics / Q000276:immunology; D018448:Models, Immunological; D019014:fas Receptor / Q000235:genetics
D019014:fas Receptor; C505530:CASP8 protein, human; D053455:Caspase 10; D053181:Caspase 8; D020169:Caspases; C506438:CASP10 protein, human