摘要
X-连锁无丙种球蛋白血症(X—linked agammaglobulinemia,XLA)是由于人类Bruton酪氨酸激酶(Btk)基因突变导致前B细胞进一步成熟为B细胞发生障碍引起的原发性免疫缺陷病,为原发性B细胞缺陷的典型代表。1952年Bruton首先报道本病,故又称为Bruton病。本文结合我院儿科2007年8月至2008年8月临床诊断的3例XLA住院患儿病历进行文献复习,以提高对该病的认识。
出处
《中国小儿急救医学》
CAS
2009年第2期203-204,共2页
Chinese Pediatric Emergency Medicine
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共引文献54
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同被引文献24
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1张志勇,赵晓东,王墨,蒋利萍,崔玉霞,赵耀,安云飞,杨锡强.10例X连锁无丙种球蛋白血症的临床分析和基因诊断[J].免疫学杂志,2009,25(6):709-712. 被引量:7
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3王晓川,王莹,金兼弘和,宫脇利男,俞晔珩.X连锁无丙种球蛋白血症的基因诊断[J].中华儿科杂志,2005,43(6):449-452. 被引量:12
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4王悦.常染色体隐性遗传的无丙种球蛋白血症[J].国外医学(儿科学分册),2005,32(6):372-374. 被引量:4
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二级引证文献2
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1陈元颖,张鹏飞,郭俊,郭若兰,李巍,钱素云,贾鑫磊,郝婵娟.利用全外显子测序技术发现BTK基因新生突变[J].中国优生与遗传杂志,2018,26(12):7-10.
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2沈文那,孙欣荣.X连锁无丙种球蛋白血症患儿4例及相关文献分析[J].中国妇幼健康研究,2020,31(4):475-482. 被引量:3
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1黄海.Btk与XLA相关性研究进展[J].国外医学(儿科学分册),1998,25(5):248-251. 被引量:1
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2王艳琼,崔玉霞,王予川,张志勇,赵晓东,蒋利萍.X-连锁无丙种球蛋白血症患儿临床表型和基因诊断分析[J].实用儿科临床杂志,2012,27(9):684-686. 被引量:5
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3师丽晓,罗丹青,师晓东.X-连锁无丙种球蛋白血症BTK基因突变1例并文献复习[J].中国医刊,2017,52(2):57-60. 被引量:4
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4方平,蒋利萍.BTK基因拼接点突变致X-连锁无丙种球蛋白血症的基因诊断[J].齐齐哈尔医学院学报,2011,32(20):3260-3261.
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5陶英博,陈慧珊,曾华松.X-连锁无丙种球蛋白血症BTK基因新发突变1例报告[J].中华临床免疫和变态反应杂志,2013,7(2):203-205. 被引量:4
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10孔祥东,莫桂玲,刘宁,田培超,陈敏芳.X-连锁无丙种球蛋白血症家系BTK基因突变分析及产前诊断研究[J].中华医学杂志,2014,94(18):1405-1408. 被引量:4