Genetic Defects of Apoptosis and Primary Immunodeficiency

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• 作者：Helen C. Su ; MD ; PhD^a ; ^{hsu@niaid.nih.gov} ; Michael J. Lenardo ; MD^b
• 刊名：Immunology and Allergy Clinics of North America
• 出版年：2008
• 出版时间：May 2008
• 年：2008
• 卷：28
• 期：2
• 页码：329-351
• 全文大小：484 K

文摘

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.