Implementation of TREC/KREC detection protocol for newborn SCID screening 
in Bulgaria: a pilot study

Marina Marinova; Atanaska Georgyeva; Viktoriya Yordanova; Nedelcho Ivanov; Valentina Atanasova; Elissaveta Naumova; Snezhina Mihailova Kandilarova

doi:10.5114/ceji.2022.124396

eISSN: 1644-4124
ISSN: 1426-3912

Central European Journal of Immunology

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4/2022
vol. 47

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abstract:

Clinical immunology

Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study

Marina Marinova

¹

,

Atanaska Georgyeva

²

,

Viktoriya Yordanova

³

,

Nedelcho Ivanov

²

,

Valentina Atanasova

²

,

Elissaveta Naumova

^{1, 2}

,

Snezhina Mihailova Kandilarova

^{1, 2}

Department of Clinical Immunology, Medical University Sofia, Bulgaria
Clinic of Clinical Immunology with Stem Cell Bank, Alexandrovska University Hospital, Sofia, Bulgaria
National Genetics Laboratory, University Hospital of Obstetrics and Gynecology “Maichin dom”, Medical University Sofia, Bulgaria

Cent Eur J Immunol 2022; 47 (4): 339-349

DOI: https://doi.org/10.5114/ceji.2022.124396

Online publish date: 2023/01/31

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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.

keywords:

Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study

Marina Marinova 1 , Atanaska Georgyeva 2 , Viktoriya Yordanova 3 , Nedelcho Ivanov 2 , Valentina Atanasova 2 , Elissaveta Naumova 1, 2 , Snezhina Mihailova Kandilarova 1, 2

TREC, SCID, newborn screening, IEI, KREC

Marina Marinova

¹

,

Atanaska Georgyeva

²

,

Viktoriya Yordanova

³

,

Nedelcho Ivanov

²

,

Valentina Atanasova

²

,

Elissaveta Naumova

^{1, 2}

,

Snezhina Mihailova Kandilarova

^{1, 2}