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lüll Genetic defects of apoptosis and primary immunodeficiency Su HC; Lenardo MJImmunol Allergy Clin North Am 2008[May]; 28 (2): 329-51, ixProgrammed cell death is important for maintaining lymphocyte homeostasis. Several human-inherited diseases with impaired apoptosis have been identified at the genetic level: autoimmune lymphoproliferative syndrome, caspase-8 deficiency state, and X-linked lymphoproliferative syndrome. These diseases feature excess lymphocyte accumulation, autoimmunity, or immunodeficiency. Elucidating their molecular pathogenesis has also provided new insights into the signaling mechanisms regulating apoptosis and lymphocyte activation.|*Alstrom Syndrome[MESH]|*Apoptosis[MESH]|Autoimmune Diseases/diagnosis/genetics/*physiopathology/therapy[MESH]|Caspase 8/metabolism[MESH]|Humans[MESH]|Immunologic Deficiency Syndromes/diagnosis/genetics/immunology/*physiopathology[MESH]|Lymphoproliferative Disorders/diagnosis/genetics/*physiopathology/therapy[MESH]|Receptors, Antigen, T-Cell/*immunology/metabolism[MESH] |