title: Genetic defects of apoptosis and primary immunodeficiency.
abstract: Programmed 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.
authors.affiliation: Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, Room 5W-3932, 10 Center Dr., MSC 1456, Bethesda, MD 20892-1456, USA. hsu@niaid.nih.gov
authors.forename: Helen C
authors.initials: HC
authors.lastname: Su
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Lenardo
mesh_terms: D056769:Alstrom Syndrome; D017209:Apoptosis; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D053181:Caspase 8 / Q000378:metabolism; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000503:physiopathology*; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D011948:Receptors, Antigen, T-Cell / Q000276:immunology* / Q000378:metabolism
chemical_list: D011948:Receptors, Antigen, T-Cell; D053181:Caspase 8