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https://doi.org/10.14300/mnnc.2025.20051

Screening of newborns in Stavropol region for inborn immunity issues

[Pediatrics]
Lyudmila Barycheva; Anna Khodzhayan; Andrey Anatolyevich Puchkov; Leila Ibragimovna Bachieva; Natalia Alexandrovna Kozmova; Lyudmila Sergeevna Khachirova;

This study presents a review of the results obtained through expanded screening of newborns in Stavropol Region embracing a period of over 2.5 years, during which abnormal biomarker levels were detected in 25 out of 61391 newborns. Molecular genetic testing identified congenital immune disorders in 8 infants, indicating an overall prevalence rate of 1:7674 in Stavropol Region. The frequency of severe combined immunodeficiency and syndromic immunodeficiencies was 1:20464, while antibody deficiency issues accounted for 1:30695. The implementation of the screening has improved primary immunodeficiency diagnostics and serves as an important tool for investigating their genetic structure within the region.

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Keywords: newborn screening, inborn errors of immunity, TREC, KREC