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1例湿疹血小板减少伴免疫缺陷综合征的基因突变分析

Analysis of gene mutations in a case of Wiskott-Aldrich syndrome
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摘要 湿疹血小板减少伴免疫缺陷综合征(WiskottAldrich syndrome,WAS)是一种少见且严重的X-连锁隐性遗传病,以血小板减少、湿疹、免疫缺陷为特征,易合并自身免疫性疾病及恶性肿瘤。该病的致病基因WAS位于X染色体短臂Xp11.22-11.23,包含12个外显子,编码含502个氨基酸的湿疹血小板减少伴免疫缺陷综合征蛋白(WASP)。 A 4 months old boy was admitted because of"refractory thrombocytopenia for 4 months,diarrhea for 5 days,vomiting for 3 days,fever for 1 day".Thrombocytopenia,eczema and recurrent upper respiratory tract infections were presented since birth,and the efficacy of glucocorticoid and gamma globulin was unsatisfactory.The pulmonary CT and G+GM test showed fungal infection and the patient coughed up blood.The anti-nuclear antibody was positive and the titer was 1∶100,the anti-SSA antibody was positive.The clinical score was 4.A novel WAS gene insertion(c.273+10_273+11dupCCwas identified at the downstream part of exon 2 in the child and his mother.The insertion mutation was rs58371799 and the pathological significance wasn't reported in literatures before.It is presumed that the classical WAS syndrome may be induced by rs58371799 mutation.
出处 《临床血液学杂志》 CAS 2018年第5期711-713,共3页 Journal of Clinical Hematology
关键词 湿疹血小板减少伴免疫缺陷综合征 WAS基因 插入突变 Wiskott-Aldrich syndrome WAS gene insert mutation
作者简介 通信作者:金润铭,E-mail:jinrunm@qq.com
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