Wiskott-Aldrich综合征
Wiskott-Aldrich Syndrome
DOI: 10.12677/ACM.2024.141221, PDF,   
作者: 简康欣：西安医学院研工部，陕西 西安；张娟娟, 王杰民*：陕西省人民医院儿童病院，陕西 西安
关键词: WAS；WASP；造血干细胞移植；基因治疗；Wiskott-Aldrich Syndrome； WASP； Hematopoietic Stem Cell Transplantation； Gene Therapy
摘要: Wiskott-Aldrich综合征(WAS)又称湿疹–血小板减少伴免疫缺陷综合征，是一种罕见的由WAS基因突变引起的X连锁隐性遗传的原发性免疫缺陷病，以血小板减少伴血小板体积减小、湿疹、免疫缺陷三联征为主要临床表现。包括典型WAS、X连锁血小板减少症(XLT)、间歇性X连锁血小板减少症(IXLT)、X连锁中性粒细胞减少症(XLN)几种不同临床类型。造血干细胞移植是目前治疗WAS最有效的手段，近年来，随着基因治疗的发展，其有望成为缺乏合适供体的WAS患儿的首选治疗方案。
Abstract: Wiskott-Aldrich syndrome (WAS), also known as eczema-thrombocytopenia with immune deficien-cy syndrome, is a rare X-linked recessive primary immune deficiency caused by WAS gene mutation. The triad of thrombocytopenia with reduced platelet volume, eczema and immune deficiency is the main clinical manifestation. There are several different clinical types including typical WAS, X-linked thrombocytopenia (XLT), intermittent X-linked thrombocytopenia (IXLT) and X-linked neutropenia (XLN). Hematopoietic stem cell transplantation is currently the most effective treat-ment for WAS. In recent years, with the development of gene therapy, it is expected to become the first choice of treatment for WAS children who lack a suitable donor.
文章引用：简康欣, 张娟娟, 王杰民. Wiskott-Aldrich综合征[J]. 临床医学进展, 2024, 14(1): 1536-1540. https://doi.org/10.12677/ACM.2024.141221

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