Progress of diagnosis and treatment for Wiskott-Aldrich syndrome
10.3760/cma.j.issn.2095-428X.2016.15.003
- VernacularTitle:Wiskott-Aldrich综合征诊断治疗进展
- Author:
Huijun ZHAO
- Publication Type:Journal Article
- Keywords:
Wiskott-Aldrich syndrome;
Primary immunodeficiency disease;
Thrombocytopenia;
Differential diagnosis;
Hematopoietic stem cell transplantation
- From:
Chinese Journal of Applied Clinical Pediatrics
2016;31(15):1129-1132
- CountryChina
- Language:Chinese
-
Abstract:
Wiskott-Aldrich syndrome (WAS) is due to the mutation of the WAS gene on the X chromosome,which has both features of primary immunodeficiency disease (PID) and congenital hereditary hematopoietic disease.Although the clinical manifestations of classic WAS were more obvious,the related gene (WAS) and its protein product (WASP) have the value of diagnosis,but due to the low incidence,and there were significant differences in the severity of clinical symptoms of the patients,so WAS is easily misdiagnosed.This article through collecting and analyzing the recent years of research progress of literature data and the clinical reports,and combined with the author＇s previous experience in the diagnosis and treatment,to induct the main points of diagnosis and treatment for WAS.
