The recent introduction of newborn screening for severe primary T and B cell deficiencies in Switzerland allows rapid identification of patients with severe combined immunodeficiency (SCID). Outcomes for SCID are greatly improved by early diagnosis and treatment with allogeneic haematopoietic stem cell transplantation or, in selected cases, gene therapy. National centralised newborn screening is performed in Switzerland since January 2019 using a combined T cell receptor excision circles (TREC) / κ-deleting recombination excision circles (KREC) assay, also revealing infants with non-SCID severe T and B cell disorders, who are often diagnosed with a substantial delay. Here, we outline the screening procedure currently performed in Switzerland and give recommendations for diagnostic evaluations and precautionary measures against infection in children with abnormal screening test results.

译文

最近在瑞士引入的新生儿筛查严重的原发性T和b细胞缺陷,可以快速识别患有严重联合免疫缺陷 (SCID) 的患者。通过同种异体造血干细胞移植或在某些情况下进行基因治疗,可以大大改善SCID的结果。自2019年1月以来,瑞士进行了全国集中新生儿筛查,使用了联合T细胞受体切除圈 (TREC) / & kappa;-删除重组切除圈 (KREC) 分析,还揭示了患有非SCID的严重T和b细胞疾病的婴儿,这些婴儿通常被诊断为严重延迟。在这里,我们概述了目前在瑞士进行的筛查程序,并为筛查结果异常的儿童提供了诊断评估和预防感染的建议。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录