先天性中性粒细胞减少
Wiskott-Aldrich综合征
Wiskott–Aldrich综合征蛋白
医学
中性粒细胞减少症
造血干细胞移植
免疫缺陷
突变
严重联合免疫缺陷
移植
免疫学
原发性免疫缺陷
基因
遗传学
生物
内科学
细胞
免疫系统
肌动蛋白细胞骨架
细胞骨架
毒性
标识
DOI:10.3760/cma.j.issn.2095-428x.2018.04.015
摘要
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.
Key words:
Wiskott-Aldrich syndrome; X-linked thrombocytopenia; X-linked neutropenia; WAS gene; Mutation
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