• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay.一种使用T细胞受体切除环检测法进行严重联合免疫缺陷新生儿筛查的实用方法。
Front Immunol. 2017 Nov 8;8:1470. doi: 10.3389/fimmu.2017.01470. eCollection 2017.
2
Newborn Screening for Severe Combined Immunodeficiency.新生儿严重联合免疫缺陷病筛查。
Curr Allergy Asthma Rep. 2018 May 10;18(6):34. doi: 10.1007/s11882-018-0783-9.
3
The Wisconsin approach to newborn screening for severe combined immunodeficiency.威斯康星州新生儿严重联合免疫缺陷症筛查方法。
J Allergy Clin Immunol. 2012 Mar;129(3):622-7. doi: 10.1016/j.jaci.2011.12.004. Epub 2012 Jan 11.
4
Newborn Screening for Severe Combined Immunodeficiency.新生儿严重联合免疫缺陷病筛查。
Pediatr Clin North Am. 2019 Oct;66(5):913-923. doi: 10.1016/j.pcl.2019.06.007.
5
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).德国新生儿重症联合免疫缺陷病的前瞻性筛查：儿科免疫学工作组（API）的首次分析。
J Clin Immunol. 2023 Jul;43(5):965-978. doi: 10.1007/s10875-023-01450-6. Epub 2023 Feb 27.
6
Newborn Screening for Severe Combined Immunodeficiency.新生儿严重联合免疫缺陷病筛查。
Immunol Allergy Clin North Am. 2021 Nov;41(4):543-553. doi: 10.1016/j.iac.2021.07.007.
7
The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.重症联合免疫缺陷（SCID）和 T 细胞淋巴细胞减少症新生儿筛查的理由：一次拯救一条生命……
Immunol Res. 2020 Feb;68(1):48-53. doi: 10.1007/s12026-020-09117-9.
8
Newborn Screening through TREC, TREC/KREC System for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive Review.通过 TREC、TREC/KREC 系统进行原发性免疫缺陷病的新生儿筛查，TREC/KREC 系统存在局限性。全面综述。
Antiinflamm Antiallergy Agents Med Chem. 2021;20(2):132-149. doi: 10.2174/1871523019999200730171600.
9
Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots.严重联合免疫缺陷的新生儿筛查：基于T细胞受体切除环的商业方法在维多利亚州干血斑中的评估。
J Paediatr Child Health. 2018 Jan;54(1):14-19. doi: 10.1111/jpc.13659. Epub 2017 Sep 1.
10
Statewide newborn screening for severe T-cell lymphopenia.全州范围内新生儿严重 T 细胞淋巴细胞减少症筛查。
JAMA. 2009 Dec 9;302(22):2465-70. doi: 10.1001/jama.2009.1806.

引用本文的文献

1
The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia.基于T细胞受体切除环的新生儿筛查在东南亚和东亚地区诊断重症联合免疫缺陷的临床及社会经济方面
Front Immunol. 2025 May 19;16:1549768. doi: 10.3389/fimmu.2025.1549768. eCollection 2025.
2
Biomarkers in Ataxia-Telangiectasia: a Systematic Review.共济失调毛细血管扩张症中的生物标志物：一项系统综述
J Neurol. 2025 Jan 15;272(2):110. doi: 10.1007/s00415-024-12766-7.
3
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.采用 TRECKREC 检测法对严重 T、B 细胞淋巴细胞减少症进行新生儿筛查：202908 例新生儿的大规模初步研究。
J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z.
4
Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?新生儿重症联合免疫缺陷病筛查呈阳性：儿科医生该怎么做？
Clin Med Insights Pediatr. 2023 Mar 31;17:11795565231162839. doi: 10.1177/11795565231162839. eCollection 2023.
5
Monitoring T-Cell Kinetics in the Early Recovery Period of Lung Transplantation Cases by Copy Number Levels of T-Cell Receptor Excision Circle.通过 T 细胞受体切除环的拷贝数水平监测肺移植术后早期恢复期间的 T 细胞动力学。
In Vivo. 2023 Jan-Feb;37(1):310-319. doi: 10.21873/invivo.13081.
6
Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.美国一家三级医疗中心对新生儿严重联合免疫缺陷症阳性筛查患儿的免疫结果和临床结局
Front Immunol. 2021 Sep 3;12:734096. doi: 10.3389/fimmu.2021.734096. eCollection 2021.
7
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.鞘氨醇磷酸酶缺乏症综合征对维生素 B6 辅酶补充的反应性。
J Inherit Metab Dis. 2020 Sep;43(5):1131-1142. doi: 10.1002/jimd.12238. Epub 2020 May 4.
8
The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.重症联合免疫缺陷（SCID）和 T 细胞淋巴细胞减少症新生儿筛查的理由：一次拯救一条生命……
Immunol Res. 2020 Feb;68(1):48-53. doi: 10.1007/s12026-020-09117-9.
9
[Advances in newborn screening and immune system reconstitution of severe combined immunodeficiency].[新生儿筛查与重症联合免疫缺陷免疫系统重建的进展]
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Jun 25;48(4):351-357. doi: 10.3785/j.issn.1008-9292.2019.08.01.
10
EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.基于 EuroFlow 的流式细胞术诊断性筛查和淋巴系统原发性免疫缺陷的分类。
Front Immunol. 2019 Jun 13;10:1271. doi: 10.3389/fimmu.2019.01271. eCollection 2019.

本文引用的文献

1
T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication.在两名患有Xq13.1重复的兄弟姐妹中，通过新生儿筛查检测到T细胞淋巴细胞减少症。
Front Pediatr. 2017 Jul 18;5:156. doi: 10.3389/fped.2017.00156. eCollection 2017.
2
Idiopathic T cell lymphopenia identified in New York State Newborn Screening.在纽约州新生儿筛查中发现的特发性T细胞淋巴细胞减少症。
Clin Immunol. 2017 Oct;183:36-40. doi: 10.1016/j.clim.2017.07.002. Epub 2017 Jul 8.
3
Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening.通过新生儿筛查确诊为严重联合免疫缺陷的婴儿的治疗。
J Allergy Clin Immunol. 2017 Mar;139(3):733-742. doi: 10.1016/j.jaci.2017.01.005.
4
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.瑞典严重原发性免疫缺陷病的新生儿筛查——一项为期两年的TREC和KREC筛查试点研究。
J Clin Immunol. 2017 Jan;37(1):51-60. doi: 10.1007/s10875-016-0347-5. Epub 2016 Nov 21.
5
Neonatal screening for severe combined immunodeficiency in Brazil.巴西新生儿重症联合免疫缺陷筛查
J Pediatr (Rio J). 2016 Jul-Aug;92(4):374-80. doi: 10.1016/j.jped.2015.10.006. Epub 2016 May 18.
6
Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.在塞维利亚对严重T淋巴细胞和B淋巴细胞缺陷进行前瞻性新生儿筛查。
Pediatr Allergy Immunol. 2016 Feb;27(1):70-7. doi: 10.1111/pai.12501. Epub 2015 Nov 23.
7
Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?辐射敏感型重症联合免疫缺陷：造血细胞移植前预处理的支持与反对观点——该如何抉择？
J Allergy Clin Immunol. 2015 Nov;136(5):1178-85. doi: 10.1016/j.jaci.2015.04.027. Epub 2015 Jun 6.
8
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.基于TREC的严重联合免疫缺陷病新生儿筛查：一项系统评价。
J Clin Immunol. 2015 May;35(4):416-30. doi: 10.1007/s10875-015-0152-6. Epub 2015 Apr 17.
9
Incidence of severe combined immunodeficiency through newborn screening in a Chinese population.中国人群中通过新生儿筛查发现的严重联合免疫缺陷病发病率。
J Formos Med Assoc. 2015 Jan;114(1):12-6. doi: 10.1016/j.jfma.2012.10.020. Epub 2013 Jan 3.
10
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.美国11个筛查项目中对重症联合免疫缺陷的新生儿筛查。
JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132.

一种使用T细胞受体切除环检测法进行严重联合免疫缺陷新生儿筛查的实用方法。

A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay.

作者信息

Thakar Monica S, Hintermeyer Mary K, Gries Miranda G, Routes John M, Verbsky James W

机构信息

Department of Pediatrics, Divisions of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI, United States.

Children's Hospital of Wisconsin, Milwaukee, WI, United States.

出版信息

Front Immunol. 2017 Nov 8;8:1470. doi: 10.3389/fimmu.2017.01470. eCollection 2017.

DOI:10.3389/fimmu.2017.01470
PMID:29167668
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5682299/
Abstract

Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is extremely sensitive to detect SCID in the newborn period. Some controversies remain regarding how screening positives are handled by individual states, including when to perform confirmatory flow cytometry, what is the necessary diagnostic workup of patients, what infection prophylaxis measures should be taken, and when hematopoietic stem cell transplantation should occur. In addition, the TREC can also assay detect infants with T cell lymphopenia who are not severe enough to be considered SCID; management of these infants is also evolving.

摘要

重症联合免疫缺陷（SCID）是一种危及新生儿和婴儿生命的疾病，由参与T细胞发育的基因缺陷引起。2008年，威斯康星州开始使用T细胞受体切除环（TREC）检测法对SCID进行新生儿筛查（NBS），到2017年所有州都已采用或正在实施该检测法。已证实，使用TREC检测法进行的NBS在新生儿期检测SCID时极其敏感。关于各个州如何处理筛查阳性结果仍存在一些争议，包括何时进行确认性流式细胞术、患者所需的诊断检查是什么、应采取哪些感染预防措施以及何时应进行造血干细胞移植。此外，TREC检测法还可以检测出T细胞淋巴细胞减少但病情严重程度不足以被视为SCID的婴儿；对这些婴儿的管理也在不断发展。