Molecular Immunology Unit and Centre for Immunodeficiency, University College London Institute of Child Health, London, UK.
Nat Rev Immunol. 2010 Mar;10(3):182-92. doi: 10.1038/nri2724.
The Wiskott-Aldrich syndrome protein (WASP) is an important regulator of the actin cytoskeleton that is required for many haematopoietic and immune cell functions, including effective migration, phagocytosis and immune synapse formation. Loss of WASP activity leads to Wiskott-Aldrich syndrome, an X-linked disease that is associated with defects in a broad range of cellular processes, resulting in complex immunodeficiency, autoimmunity and microthrombocytopenia. Intriguingly, gain of function mutations cause a separate disease that is mainly characterized by neutropenia. Here, we describe recent insights into the cellular mechanisms of these two related, but distinct, human diseases and discuss their wider implications for haematopoiesis, immune function and autoimmunity.
Wiskott-Aldrich 综合征蛋白（WASP）是细胞骨架肌动蛋白的重要调节因子，对于许多造血细胞和免疫细胞的功能至关重要，包括有效的迁移、吞噬作用和免疫突触的形成。WASP 活性的丧失导致 X 连锁的 Wiskott-Aldrich 综合征，这是一种与广泛的细胞过程缺陷相关的疾病，导致复杂的免疫缺陷、自身免疫和微小血小板减少症。有趣的是，功能获得性突变导致一种单独的疾病，其主要特征是中性粒细胞减少症。在这里，我们描述了最近对这两种相关但不同的人类疾病的细胞机制的深入了解，并讨论了它们对造血、免疫功能和自身免疫的更广泛影响。
