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Updated: Jul 5, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
Published on: February 24, 2014
Genetic defects of apoptosis and primary immunodeficiency
Helen C Su1, Michael J Lenardo
1Human 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
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.
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