骨架蛋白调节相关原发性免疫缺陷病的机制研究

Mechanism of cytoskeleton-related regulation on the primary immunodeficiency diseases

摘要:

原发性免疫缺陷病（primary immmunodeficiency disease，PID）是一组由基因突变导致的免疫失衡性疾病，主要表现为反复、严重感染，特殊病原微生物感染，常伴自身免疫及肿瘤高度易感性。细胞骨架是一组维持细胞形态、促进细胞移动且可调节细胞多项功能的蛋白网状结构，主要由微管、微丝和中间纤维组成。本文以PID为研究背景，以威斯科特-奥尔德里奇综合征（Wiskott-Aldrich syndrome，WAS）和DOCK8缺陷为例，对WAS蛋白和DOCK8蛋白在细胞免疫、体液免疫及其在免疫代谢、核内调节的的作用机制进行工作综述，并对尚存科学问题进行展望。

Abstract:

Primary immunodeficiency disease (PID) is a group of immune disorder caused by gene mutation. It is clinically manifested as recurrent and severe infections especially by specific pathogenic microorganism and often accompanied by auto-immune and high susceptibility to tumors. Cytoskeleton is a system of filaments or fibers that maintains cell shape, support cell’s movement and regulates multiple cellular functions, mainly composed of microtubules, microfilaments and intermediate fibers. On the background of PID and taken Wiskott-Aldrich syndrome (WAS) and DOCK8 deficiency disease as examples, we reviewed on the regulation of WAS protein, DOCK8 as cytoskeleton proteins in cellular immunity, humoral immunity, immune metabolism and their role in nuclear regulation. In addition, we also addressed currently unsolved scientific questions.