Department of Immunochemistry, Institute of Chemical Engineering, Ural Federal University, Yekaterinburg, Russian Federation.
Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, Russian Federation.
Antiinflamm Antiallergy Agents Med Chem. 2021;20(2):132-149. doi: 10.2174/1871523019999200730171600.
Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) and Kappa receptor excision circles in neonatal dried blood spots (DBS) enables early diagnosis of different types of primary immune deficiencies. Global newborn screening for PID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC, TREC/KREC combines screening, and continued challenges to implementation.
To review the diagnostic performance of published articles for TREC and TREC/ KREC based NBS for PID and its different types.
Different research resources were used to get an approach for the published data of TREС and KREC based NBS for PID like PubMed, Scopus, Google Scholar, Research gate EMBASE. We extracted TREC and KREC screening Publisher with years of publication, content and cut-off values, and a number of retests, repeat DBS, and referrals from the different published pilot, pilot cohort, Case series, and cohort studies.
We included the results of TREC, combined TREC/KREC system based NBS screening from different research articles, and divided these results between the Pilot studies, case series, and cohort. For each of these studies, different parameter data are excluded from different articles. Thirteen studies were included, re-confirming 89 known SCID cases in case series and reporting 53 new SCID cases in 3.15 million newborns. Individual TREC contents in all SCID patients were <25 TRECs/μl (except in those evaluated with the New York State assay).
TREC and KREC sensitivity for typical SCID and other types of PID was 100 %. It shows its importance and anticipating the significance of implementation in different undeveloped and developed countries in the NBS program in upcoming years. Data adapting the screening algorithm for pre-term/ill infants reduce the amount of false-positive test results.
通过定量检测新生儿干血斑（DBS）中的 T 细胞受体切除环（TRECs）和 Kappa 受体切除环，进行新生儿筛查（NBS）可实现不同类型原发性免疫缺陷病的早期诊断。目前，美国所有州都在使用一种检测 T 细胞受体切除环（TREC）的检测方法对 PID 进行全球新生儿筛查。在这篇综述中，我们讨论了 TREC 的发展和结果、TREC/KREC 联合筛查，以及实施过程中持续存在的挑战。
综述已发表的基于 TREC 和 TREC/KREC 的 NBS 用于 PID 及其不同类型的诊断性能的文章。
利用不同的研究资源，检索了基于 TREC 和 KREC 的 NBS 用于 PID 的已发表数据，包括 PubMed、Scopus、Google Scholar、Research Gate 和 EMBASE。我们提取了 TREC 和 KREC 筛查的出版物，包括发表年份、内容和截止值，以及一些复测、重复 DBS 和转诊的情况。
我们纳入了基于 TREC 和 TREC/KREC 系统的 NBS 筛查的结果，这些结果来自不同的研究文章，并将这些结果分为初步研究、病例系列和队列研究。对于每一项研究，我们都从不同的文章中排除了不同的参数数据。共纳入 13 项研究，在病例系列研究中重新确认了 89 例已知的 SCID 病例，并在 315 万例新生儿中报告了 53 例新的 SCID 病例。所有 SCID 患者的个体 TREC 含量均<25TRECs/μl（纽约州检测方法评估的患者除外）。
TREC 和 KREC 对典型 SCID 和其他类型 PID 的敏感性为 100%。这表明其重要性，并预期在未来几年，在不同欠发达国家和发达国家的 NBS 计划中实施该检测。适应早产儿/患病婴儿筛查算法的数据减少了假阳性检测结果的数量。
