Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study
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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2023-01-01
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| Series: | Central European Journal of Immunology |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Implementation-of-TREC-KREC-detection-protocol-for-newborn-SCID-screening-r-nin-Bulgaria-a-pilot-study,10,49991,1,1.html |
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| author | Marina Marinova Atanaska Georgyeva Viktoriya Yordanova Nedelcho Ivanov Valentina Atanasova Elissaveta Naumova Snezhina Mihailova Kandilarova |
| author_facet | Marina Marinova Atanaska Georgyeva Viktoriya Yordanova Nedelcho Ivanov Valentina Atanasova Elissaveta Naumova Snezhina Mihailova Kandilarova |
| author_sort | Marina Marinova |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T16:52:38Z |
| format | Article |
| id | doaj.art-ab9ee637f1414259b6f000801c0de4b2 |
| institution | Directory Open Access Journal |
| issn | 1426-3912 1644-4124 |
| language | English |
| last_indexed | 2025-02-18T18:25:06Z |
| publishDate | 2023-01-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Central European Journal of Immunology |
| spelling | doaj.art-ab9ee637f1414259b6f000801c0de4b22024-10-22T08:02:29ZengTermedia Publishing HouseCentral European Journal of Immunology1426-39121644-41242023-01-0147433934910.5114/ceji.2022.12439649991Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot studyMarina MarinovaAtanaska GeorgyevaViktoriya YordanovaNedelcho IvanovValentina AtanasovaElissaveta NaumovaSnezhina Mihailova KandilarovaNeonatal 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.https://www.termedia.pl/Implementation-of-TREC-KREC-detection-protocol-for-newborn-SCID-screening-r-nin-Bulgaria-a-pilot-study,10,49991,1,1.htmltrec scid newborn screening iei krec |
| spellingShingle | Marina Marinova Atanaska Georgyeva Viktoriya Yordanova Nedelcho Ivanov Valentina Atanasova Elissaveta Naumova Snezhina Mihailova Kandilarova Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study Central European Journal of Immunology trec scid newborn screening iei krec |
| title | Implementation of TREC/KREC detection protocol for newborn SCID screening
in Bulgaria: a pilot study |
| title_full | Implementation of TREC/KREC detection protocol for newborn SCID screening
in Bulgaria: a pilot study |
| title_fullStr | Implementation of TREC/KREC detection protocol for newborn SCID screening
in Bulgaria: a pilot study |
| title_full_unstemmed | Implementation of TREC/KREC detection protocol for newborn SCID screening
in Bulgaria: a pilot study |
| title_short | Implementation of TREC/KREC detection protocol for newborn SCID screening
in Bulgaria: a pilot study |
| title_sort | implementation of trec krec detection protocol for newborn scid screening in bulgaria a pilot study |
| topic | trec scid newborn screening iei krec |
| url | https://www.termedia.pl/Implementation-of-TREC-KREC-detection-protocol-for-newborn-SCID-screening-r-nin-Bulgaria-a-pilot-study,10,49991,1,1.html |
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