Wiskott-Aldrich综合征的临床研究进展

Clinical Advance of Wiskott-Aldrich Syndrome

Wiskott-Aldrich综合征(WAS)是一种少见的X-连锁隐性遗传性免疫缺陷病,临床以血小板减少伴小血小板、湿疹、免疫缺陷三联征及易患自身免疫性疾病和恶性肿瘤为特点。由编码WAS蛋白(WASP)的WASP基因突变所致。现已明确WASP基因的6个突变热点。近年应用流式细胞术检测WASP能快速、准确筛查,基因诊断可确诊并检出携带者。国内外造血干细胞移植(HSCT)已成功治愈多名WAS患儿,是目前根治该病最有效的方法。迄今国内诊断WAS40余例,因临床表型存在差异,加之报道较少,该病易被误诊为特发性血小板减少性紫癜。随着本病临床研究的深入,将有更多的WAS患儿得到及时诊治。

The Wiskott -Aldrich syndrome （WAS） is a rare X -linked recessive immunodeficiency disorder characterized by thrombocytopenia and small platelets, eczema, recurrent infections, and increased risk for autoimmunity and malignancy. The gene responsible for this syndrome is WAS protein （WASP） gene. Six mutational hotspots have been identified now. Flow cytometric analysis of the WASP expression in lymphocytes is simple, rapid, and applicable for screening of WAS. WASP gene sequencing analysis can confirm the diagnosis. Hematopoietic stem cell transplantation （HSCT） is the mainstay of treatment for WAS. So far more than 40 WAS patients have been diagnosed in China. Due to the few reports and varied clinical manifestations, WAS is often misdiagnosed as idiopathic thrombocytopenic purpura. This review will focus on recent progress in understanding the clinical presentations associated with mutations of the WASP gene, the genotype - phenotype correlation and management of this lethal disease.