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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。
Wiskott-Aldrich syndrome (WAS) is a rare, X-linked recessive hereditary immunodeficiency disorder characterized clinically by thrombocytopenia with small platelets, eczema, immunodeficiency syndrome and predisposition to autoimmune diseases and malignancies . Caused by the WASP gene mutation that encodes the WASP (WASP). It is now clear WASP gene 6 mutation hot spots. In recent years, the application of flow cytometry WASP can quickly and accurately screening, gene diagnosis can be diagnosed and detected carrier. Domestic and foreign hematopoietic stem cell transplantation (HSCT) has successfully cured more than one WAS children, is currently the most effective way to cure the disease. To date, more than 40 cases of WAS40 have been diagnosed as idiopathic thrombocytopenic purpura due to the difference of clinical phenotypes and few reports. With the in-depth clinical studies of this disease, there will be more timely diagnosis and treatment of WAS children.