Biology of the Immune Response

该项目的目标是确定和描述某些与癌症发病率增加有关的原发免疫缺陷疾病的遗传基础。虽然这些疾病很少见，但他们的研究在定义人类免疫功能中以前未被怀疑的重要因素方面具有极大的指导意义。免疫生理科进行临床转化研究计划。我们已经确定DNA修复酶Msh5在常见变量免疫缺陷患者中存在缺陷，这是与癌症发病率增加有关的最常见的原发免疫缺陷疾病之一。我们已经证明，大约11%患有另一种原发免疫缺陷疾病-Wiskott-Aldrich综合征的患者，他们的突变基因有自发的遗传逆转。

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.