Biology of the Immune Response

免疫反应生物学

• 批准号: 7331379
• 负责人: DAVID NELSON
• 金额: --
• 依托单位: DIVISION OF CLINICAL SCIENCES - NCI
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7331379
• 关键词: Biology; Immune; Response

The goal of this project is to identify and characterize the genetic basis for certain of the primary immunodeficiency disorders, which are associated with an increased incidence of cancer. While these disorders are rare, their study has been extremely instructive in defining previously unsuspected elements of importance in human immune function. The Immunophysiology Section conducts a clinical translational research program. We have identified the DNA repair enzyme Msh5 as being defective in patients with Common Variable Immune Deficiency, one of the most common primary immune deficiency diseases associated with an increased incidence of cancer.We have shown that approximately 11% of patients with another primary immune deficiency disease, the Wiskott-Aldrich syndrome, have spontaneous genetic reversions in their mutated genes.

该项目的目标是确定和表征某些原发性免疫缺陷疾病的遗传基础，这些疾病与癌症发病率增加有关。虽然这些疾病很罕见，但他们的研究对于定义以前未被怀疑的人类免疫功能的重要因素非常有启发性。免疫生理学科开展临床转化研究项目。我们已经确定，常见可变免疫缺陷病患者的 DNA 修复酶 Msh5 有缺陷，这是与癌症发病率增加相关的最常见的原发性免疫缺陷病之一。我们已经发现，患有另一种原发性免疫缺陷病 Wiskott-Aldrich 综合征的患者中，约 11% 的突变基因存在自发性基因逆转。