An increasing number of primary immunodeficiencies (PIDs) have been identified over the last decade, which are caused by deleterious mutations in genes encoding for proteins involved in actin cytoskeleton regulation. These mutations primarily affect hematopoietic cells and lead to defective function of immune cells, such as impaired motility, signaling, proliferative capacity, and defective antimicrobial host defense. Here, we review several of these immunological “actinopathies” and cover both clinical aspects, as well as cellular mechanisms of these PIDs. We focus in particular on the effect of these mutations on human neutrophil function.
J Innate Immun

中文翻译：

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当肌动蛋白不像它应该的那样肌动蛋白时：一种不同的原发性免疫缺陷疾病的新类别。

在过去十年中，越来越多的原发性免疫缺陷 (PID) 被发现，这是由编码参与肌动蛋白细胞骨架调节的蛋白质的基因中的有害突变引起的。这些突变主要影响造血细胞并导致免疫细胞功能缺陷，例如运动性、信号传导、增殖能力和抗菌宿主防御缺陷。在这里，我们回顾了这些免疫学“放线病”中的几种，涵盖了这些 PID 的临床方面以及细胞机制。我们特别关注这些突变对人类中性粒细胞功能的影响。
J先天免疫