• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>International Journal of Neonatal Screening >Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay?￠????A Three-Year Pilot Study in Sweden
【24h】

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay?￠????A Three-Year Pilot Study in Sweden

机译：使用TREC / KREC / ACTB三重分析法对新生儿进行原发性免疫缺陷筛查-一项为期三年的瑞典试点研究

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Background : Screening newborns for severe combined immunodeficiency (SCID) has become essential, since efficient methods to identify infants with these disorders exist and early stem cell transplantation is life-saving. Method : We performed a three-year screening trial in Stockholm comprised of 89,462 newborn infants. The number of T-cell receptor excision circle (TREC)/kappa-deleting recombination excision circle (KREC)/???2-actin ( ACTB ) copies were quantified simultaneously by real time polymerase chain reaction (PCR) in 3.2 mm punches from dried blood samples taken in the regular neonatal screening program. Results : Five patients with immune deficiencies were identified: two with SCID caused by mutations in the Artemis- and adenosine deaminase gene, respectively, one with ataxia telangiectasia and two with reversible agammagloblinemia, which so far, is of unknown cause. This points to an incidence of SCID at the same level as in other studies (around 1:50,000). In 19 recalled infants, low KREC levels and in one case, also low TREC levels, were caused by immunosuppressive treatment of the mother during pregnancy. The levels normalized within a month in all these infants. The total recall rate was 0.10%, and 40% of the recalled infants were born prematurely (<37 weeks gestation). Among 69 patients with inborn errors of metabolism screened retrospectively, only two, who were severely ill with organic acidemias when the sample was taken, and two with mitochondrial disorders, screened positive.
机译：背景：对新生儿进行严重合并免疫缺陷症（SCID）筛查已成为必不可少的步骤，因为已存在识别患有这些疾病的婴儿的有效方法，并且早期的干细胞移植可以挽救生命。方法：我们在斯德哥尔摩进行了一项为期三年的筛选试验，其中包括89,462名新生儿。通过实时聚合酶链反应（PCR）在3.2 mm的穿孔机中同时定量T细胞受体切除环（TREC）/κ缺失重组切除环（KREC）/β2-肌动蛋白（ACTB）的数量。在常规新生儿筛查程序中采集的干血样本。结果：确认了5例免疫缺陷患者：2例由Artemis-和腺苷脱氨酶基因突变引起的SCID，1例患有共济失调性毛细血管扩张和2例可逆性无小球蛋白血症，到目前为止，原因尚不明。这表明SCID的发生率与其他研究相同（大约1：50,000）。在19名被召回的婴儿中，KREC水平低，在一种情况下，TREC水平也低，是由于母亲在怀孕期间进行免疫抑制治疗引起的。所有这些婴儿的血脂水平在一个月内恢复正常。总召回率为0.10％，其中40％的召回婴儿早产（妊娠<37周）。回顾性筛查的69例先天性代谢异常患者中，只有2例在筛检时严重患有有机酸血症，而2例患有线粒体疾病，筛查呈阳性。

著录项

相似文献

  • 外文文献
  • 中文文献
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号