Genetic disorders of programmed cell death in the immune system

N Bidère, HC Su, MJ Lenardo - Annu. Rev. Immunol., 2006 - annualreviews.org
Annu. Rev. Immunol., 2006annualreviews.org
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 …
Abstract
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.
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