论文部分内容阅读
Wiskott-Aldrich综合征(WAS)是一种少见的X-连锁隐性遗传性免疫缺陷病,以血小板减少伴小血小板、湿疹、免疫缺陷为主要表现,易患自身免疫性疾病和恶性肿瘤。该病由编码WAS蛋白(WASp)的WAS基因突变所致。WASp仅在造血系统表达,在造血细胞分化、迁移,细胞信号传导,免疫突触形成及淋巴细胞凋亡中起重要作用,可导致多种免疫细胞的功能异常。近来对WAS发病机制,尤其是各种免疫细胞的功能进行了深入研究。但自身免疫和血小板减少的机制仍不清楚。现将近年WAS的研究进展综述如下。
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive hereditary immunodeficiency disease with thrombocytopenia with small platelets, eczema, immunodeficiency as the main manifestation of predisposition to autoimmune diseases and malignancies. The disease is caused by a WAS gene mutation that encodes the WAS protein. WASp is expressed only in the hematopoietic system and plays an important role in hematopoietic cell differentiation, migration, cell signaling, immune synapse formation and lymphocyte apoptosis, resulting in dysfunction of a variety of immune cells. Recently, the pathogenesis of WAS, especially the function of various immune cells were studied in depth. However, the mechanisms of autoimmunity and thrombocytopenia remain unclear. Now WAS research progress in recent years are summarized below.