Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency characterised by immune dysregulation, microthrombocytopaenia, eczema and lymphoid malignancies. Mutations in the WAS gene can lead to distinct syndrome variations which largely, although not exclusively, depend upon the mutation. Premature termination and deletions abrogate Wiskott-Aldrich syndrome protein (WASp) expression and lead to severe disease (WAS). Missense mutations usually result in reduced protein expression and the phenotypically milder X-linked thrombocytopenia (XLT) or attenuated WAS [1-3]. More recently however novel activating mutations have been described that give rise to X-linked neutropenia (XLN), a third syndrome defined by neutropenia with variable myelodysplasia [4-6]. WASP is key in transducing signals from the cell surface to the actin cytoskeleton, and a lack of WASp results in cytoskeletal defects that compromise multiple aspects of normal cellular activity including proliferation, phagocytosis, immune synapse formation, adhesion and directed migration.

中文翻译：

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Wiskott-Aldrich 综合征：肌动蛋白细胞骨架和免疫细胞功能。

Wiskott-Aldrich 综合征 (WAS) 是一种罕见的 X 连锁隐性原发性免疫缺陷，其特征是免疫失调、微血小板减少症、湿疹和淋巴恶性肿瘤。WAS 基因中的突变会导致不同的综合征变异，这在很大程度上取决于突变，尽管不是唯一的。过早终止和缺失消除了 Wiskott-Aldrich 综合征蛋白 (WASp) 的表达并导致严重的疾病 (WAS)。错义突变通常会导致蛋白质表达降低和表型较轻的 X 连锁血小板减少症 (XLT) 或减弱的 WAS [1-3]。然而，最近描述了引起 X 连锁中性粒细胞减少症 (XLN) 的新型激活突变，这是由中性粒细胞减少症和可变骨髓增生异常定义的第三种综合征 [4-6]。