UDC

616-037-053.36:57.083.3:371.71

DOI

10.37482/2687-1491-Z258

Authors

Gyuzyal Sh. Gafiyatullina* ORCID: https://orcid.org/0000-0002-7656-2101
Galina B. Evdokimova* ORCID: https://orcid.org/0009-0000-9139-8488
Olesya Z. Puzikova** ORCID: https://orcid.org/0000-0002-2868-0664
*Rostov State Medical University (Rostov-on-Don, Russia)
**Semashko Central City Hospital (Rostov-on-Don, Russia)

Abstract

The early period of the development of the human body, characterized by a rapid growth of organs and tissues, plays an extremely important role in health. Researchers have been studying innate errors of immunity (IЕI) that may be associated with increased susceptibility to infections, autoimmunity, lymphoproliferation and malignancies. As a result, advanced newborn screening for IЕI was introduced, involving quantifying T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC). This paper aimed to analyse scientific publications on the possible use of TREC/KREC quantification in newborn screening in order to assess the health status of children. The following open databases were searched: PubMed, Google Scholar, SpringerLink and eLIBRARY.RU. The sample included 53 papers studying TREC and KREC parameters in children published between 2016 and 2024. Many authors recorded changes in the parameters of immunological newborn screening among premature infants and those with various infectious, somatic, autoimmune and genetic diseases. These abnormalities in the immune system may be a factor complicating the course of the main condition and the effectiveness of its treatment as well as increase the risk of concomitant pathology. Thus, testing for primary immunodeficiency by quantifying TREC and KREC in the dry blood spots of newborns allows us to not only determine risk groups for IEI, but also carry out a comprehensive health assessment.

Keywords

newborn screening, innate immunity, immunodeficiency, TREC, KREC, newborns, children

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