湿疹、血小板减少伴免疫缺陷综合征的诊治进展

Progress in diagnosis and treatment of eczema thrombocytopenia with immunodeficiency syndrome

湿疹、血小板减少伴免疫缺陷综合征又名Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome,WAS),是一种罕见的X-连锁的原发性免疫缺陷病,以血小板减少、出现湿疹、反复感染及免疫缺陷和恶性肿瘤发生率增加为特点。该疾病由造血细胞的WAS基因突变引起,WAS基因突变影响WAS蛋白(Wiskott-Aldrich syndrome protein, WASp)表达水平,而WASp表达水平与疾病严重程度正相关。WAS基因突变除引起以湿疹、血小板减少及免疫缺陷为典型三联征表现的WAS外,还可引起以轻度血小板减少为主要表现的X-连锁血小板减少症(X-linked thrombocytopenia,XLT)。造血干细胞移植是目前治疗WAS最有效的手段。近年,基因治疗也开始进入临床研究中。本文就近年来WAS诊治进展作一综述。

Eczema thrombocytopenia with immunodeficiency syndrome is also known as Wiskott-Aldrich syndrome(WAS), which is a rare X-linked primary immunodeficiency disease characterized by thrombocytopenia, eczema, recurrent infections and increased incidence of autoimmune and malignant tumors. The disease is caused by the mutation of WAS gene in hematopoietic cells. The mutation of WAS gene affects the expression level of Wiskott-Aldrich syndrome protein(WASp), and the expression level of WASp is positively correlated with the severity of the disease. In addition to WAS,which is characterized by eczema, thrombocytopenia and immunodeficiency, WAS gene mutation can also cause X-linked thrombocytopenia(XLT), which is characterized by mild thrombocytopenia.Hematopoietic stem cell transplantation is the most effective treatment for WAS. In recent years, gene therapy has also begun to enter clinical trials. This article reviews the progress of WAS diagnosis and treatment in recent years.