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Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study
Central European Journal of Immunology ( IF 1.3 ) Pub Date : 2023-01-31 , DOI: 10.5114/ceji.2022.124396 Marina Marinova 1 , Atanaska Georgyeva 2 , Viktoriya Yordanova 3 , Nedelcho Ivanov 2 , Valentina Atanasova 2 , Elissaveta Naumova 1, 2 , Snezhina Mihailova Kandilarova 1, 2
Central European Journal of Immunology ( IF 1.3 ) Pub Date : 2023-01-31 , DOI: 10.5114/ceji.2022.124396 Marina Marinova 1 , Atanaska Georgyeva 2 , Viktoriya Yordanova 3 , Nedelcho Ivanov 2 , Valentina Atanasova 2 , Elissaveta Naumova 1, 2 , Snezhina Mihailova Kandilarova 1, 2
Affiliation
Neonatal screening for inborn errors of immunity (IEI), based on quantification of T-cell-receptor- excision circles (TRECs) and kappa-deleting recombination-excision circles (KRECs) from dried blood spots (DBS), allows early diagnosis and improved outcomes for the affected children.
Determination of TREC/KREC levels from prospectively collected newborns’ Guthrie cards and from DBS samples of patients with confirmed IEI was done using a commercial kit. Retrospective assessment of flow cytometry evaluation of TREC/KREC correspondence with lymphocyte subpopulations and evaluation of the correlations between TREC and KREC with immune cells, based on the data from patients with suspected or confirmed immune disorders, were conducted.
2,228 Guthrie cards were tested, 1276 for TREC only and 952 for both TREC and KREC. Eight newborns (0.36%) were TREC positive and 10 (1.05%) had KREC below the cut-off. The re-testing rate was 1.88%. Retrospective analysis demonstrated that the TREC/KREC assay identifies 100% of severe combined immune deficiencies (SCID) cases when DBS were collected at birth. Correlation analysis showed moderate significant correlations between TREC and the absolute numbers of CD4 cells (r = 0.634, p < 0.01) and total T cells (r = 0.536, p < 0.01). The ability of KREC levels to predict abnormal absolute (AUC of 0.772) and relative (AUC 0.731) levels of B cells was demonstrated.
中文翻译：
保加利亚新生儿 SCID 筛查 TREC/KREC 检测方案的实施：一项试点研究
基于对干血点 (DBS) 中的 T 细胞受体切除环 (TREC) 和 kappa 缺失重组切除环 (KREC) 的量化，对先天性免疫缺陷 (IEI) 进行新生儿筛查，可以进行早期诊断并改进受影响儿童的结果。
使用商业试剂盒从前瞻性收集的新生儿 Guthrie 卡和确诊 IEI 患者的 DBS 样本中确定 TREC/KREC 水平。根据疑似或确诊免疫疾病患者的数据，对 TREC/KREC 与淋巴细胞亚群的对应关系进行流式细胞术评估，并对 TREC 和 KREC 与免疫细胞的相关性进行回顾性评估。
测试了 2,228 张 Guthrie 卡，其中 1276 张仅用于 TREC，952 张用于 TREC 和 KREC。8 名新生儿 (0.36%) 为 TREC 阳性，10 名 (1.05%) 的 KREC 低于临界值。复试率为1.88%。回顾性分析表明，当在出生时收集 DBS 时，TREC/KREC 检测可识别 100% 的严重联合免疫缺陷 (SCID) 病例。相关性分析显示 TREC 与 CD4 细胞的绝对数量（r = 0.634，p < 0.01）和总 T 细胞（r = 0.536，p < 0.01）之间存在适度的显着相关性。证明了 KREC 水平预测 B 细胞异常绝对 (AUC 0.772) 和相对 (AUC 0.731) 水平的能力。
更新日期：2023-02-02
Determination of TREC/KREC levels from prospectively collected newborns’ Guthrie cards and from DBS samples of patients with confirmed IEI was done using a commercial kit. Retrospective assessment of flow cytometry evaluation of TREC/KREC correspondence with lymphocyte subpopulations and evaluation of the correlations between TREC and KREC with immune cells, based on the data from patients with suspected or confirmed immune disorders, were conducted.
2,228 Guthrie cards were tested, 1276 for TREC only and 952 for both TREC and KREC. Eight newborns (0.36%) were TREC positive and 10 (1.05%) had KREC below the cut-off. The re-testing rate was 1.88%. Retrospective analysis demonstrated that the TREC/KREC assay identifies 100% of severe combined immune deficiencies (SCID) cases when DBS were collected at birth. Correlation analysis showed moderate significant correlations between TREC and the absolute numbers of CD4 cells (r = 0.634, p < 0.01) and total T cells (r = 0.536, p < 0.01). The ability of KREC levels to predict abnormal absolute (AUC of 0.772) and relative (AUC 0.731) levels of B cells was demonstrated.
中文翻译：
保加利亚新生儿 SCID 筛查 TREC/KREC 检测方案的实施：一项试点研究
基于对干血点 (DBS) 中的 T 细胞受体切除环 (TREC) 和 kappa 缺失重组切除环 (KREC) 的量化，对先天性免疫缺陷 (IEI) 进行新生儿筛查，可以进行早期诊断并改进受影响儿童的结果。
使用商业试剂盒从前瞻性收集的新生儿 Guthrie 卡和确诊 IEI 患者的 DBS 样本中确定 TREC/KREC 水平。根据疑似或确诊免疫疾病患者的数据，对 TREC/KREC 与淋巴细胞亚群的对应关系进行流式细胞术评估，并对 TREC 和 KREC 与免疫细胞的相关性进行回顾性评估。
测试了 2,228 张 Guthrie 卡，其中 1276 张仅用于 TREC，952 张用于 TREC 和 KREC。8 名新生儿 (0.36%) 为 TREC 阳性，10 名 (1.05%) 的 KREC 低于临界值。复试率为1.88%。回顾性分析表明，当在出生时收集 DBS 时，TREC/KREC 检测可识别 100% 的严重联合免疫缺陷 (SCID) 病例。相关性分析显示 TREC 与 CD4 细胞的绝对数量（r = 0.634，p < 0.01）和总 T 细胞（r = 0.536，p < 0.01）之间存在适度的显着相关性。证明了 KREC 水平预测 B 细胞异常绝对 (AUC 0.772) 和相对 (AUC 0.731) 水平的能力。
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