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Wiskott-Aldrich综合征相关疾病

Wiskott- Aldrich syndrome related diseases
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摘要 Wiskott-Aldrich综合征(WAS)相关疾病是一类由WAS基因突变引起的X连锁隐性遗传病,包括WAS、X连锁血小板减少症(XLT)和X连锁中性粒细胞减少症(XLN)。本类疾病的主要临床特点为湿疹、血小板减少及免疫缺陷。该病可导致严重并发症,因此应早期诊断、早期治疗。严重患者需进行异基因造血干细胞移植。 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.
作者 殷勇 陈健德 Yin Yong , Chen Jiande (National Children's Medical Center/Department of Respiratory Medicine, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiaotong University, Shanghai 200127, China)
出处 《中华实用儿科临床杂志》 CSCD 北大核心 2018年第4期297-299,共3页 Journal of Applied Clinical Pediatrics
关键词 Wiskott—Aldrich综合征 X连锁血小板减少症 X连锁中性粒细胞减少症 WAS基因 突变 Wiskott-Aldrich syndrome X-linked thrombocytopenia X-linked neutropenia WAS gene Mutation
作者简介 通信作者:殷勇,Email:yinyong9999@163.com
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