Wiskott-Aldrich综合征的研究进展

Research progress of Wiskott-Aldrich syndrome

Wiskott-Aldrich综合征是一种WASP缺陷导致的先天性免疫异常病,其典型症状为湿疹、血小板减少导致的出血、免疫缺陷导致的反复感染。诊断主要依靠WASP水平降低以及WAS基因缺陷,目前最有效的治疗手段为造血干细胞移植,近年来基因治疗也在逐渐进入应用;对症治疗方面,促血小板生成素受体激动剂的使用为减少甚至避免输注血小板提供了可能。关于WASP的基础研究揭示了WASP在免疫系统的调节、血小板的维持以及肿瘤的发生等方面具有重要作用,这类研究也将为WAS的诊断和治疗提供依据。

Wiskott-Aldrich syndrome(WAS)is an inborn error of immunity caused by WAS protein(WASP)deficiency,featured by eczema,bleeding caused by thrombocytopenia,recurrent infections caused by immunodeficiency.Diagnosis of WAS depends on the decrease of WASP and the mutations on WAS.Hematopoietic stem cell transplant(HSCT)is the most efficient therapeutic method now,and gene therapy shows satisfying efficiency and safety recently.As for the symptomatic treatment,thrombopoietin-receptor agonists make it possible for using less or no platelet infusion.Fundamental researches about WASP reveal the important roles of WASP in the regulation of immune system,maintenance of the count of platelet and oncogenesis.These researches also provide clues for diagnosis and treatment of WAS.