Wiskott-Aldrich syndrome related diseases
10.3760/cma.j.issn.2095-428X.2018.04.015
- VernacularTitle:Wiskott-Aldrich综合征相关疾病
- Author:
Yong YIN
1
;
Jiande CHEN
Author Information
1. 国家儿童医学中心/上海交通大学医学院附属上海儿童医学中心呼吸科
- Keywords:
Wiskott-Aldrich syndrome;
X-linked thrombocytopenia;
X-linked neutropenia;
WAS gene;
Mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(4):297-299
- CountryChina
- Language:Chinese
-
Abstract:
The Wiskott-Aldrich syndrome (WAS) related disorders,which include WAS,X-linked thrombocytopenia (XLT),and X-linked congenital neutropenia (XLN),are caused by WAS gene mutation and inherited in an X-linked recessive manner.The main clinical features of these disorders are eczema,thrombocytopenia and immunodeficiency.They can lead to severe complications,so early diagnosis and early treatment are necessary.In severe cases,allogeneic hematopoietic stem cell transplantation is required.