Molecular Immunology Unit, Center for Immunodeficiency, Institute of Child Health, University College London, London, UK.
Immunol Rev. 2013 Nov;256(1):282-99. doi: 10.1111/imr.12114.
The importance of the cytoskeleton in mounting a successful immune response is evident from the wide range of defects that occur in actin-related primary immunodeficiencies (PIDs). Studies of these PIDs have revealed a pivotal role for the actin cytoskeleton in almost all stages of immune system function, from hematopoiesis and immune cell development, through to recruitment, migration, intercellular and intracellular signaling, and activation of both innate and adaptive immune responses. The major focus of this review is the immune defects that result from mutations in the Wiskott-Aldrich syndrome gene (WAS), which have a broad impact on many different processes and give rise to clinically heterogeneous immunodeficiencies. We also discuss other related genetic defects and the possibility of identifying new genetic causes of cytoskeletal immunodeficiency.
细胞骨架在成功免疫反应中的重要性,从广泛发生在与肌动蛋白相关的原发性免疫缺陷病(PID)中的缺陷中可见一斑。对这些 PID 的研究揭示了肌动蛋白细胞骨架在免疫系统功能的几乎所有阶段中的关键作用,从造血和免疫细胞发育,到募集、迁移、细胞间和细胞内信号传递,以及先天和适应性免疫反应的激活。这篇综述的主要重点是导致 Wiskott-Aldrich 综合征基因(WAS)突变的免疫缺陷,这些缺陷对许多不同的过程产生广泛影响,并导致临床上异质性的免疫缺陷。我们还讨论了其他相关的遗传缺陷,并探讨了识别细胞骨架免疫缺陷新的遗传原因的可能性。