Results of newborn screening for inborn errors of immunity in the healthcare system of the Northwestern Federal District of Russian Federation in 2023-2024

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Abstract

The newborn screening program (NBS) plays a critical role in the development of the healthcare system of the Russian Federation. Since 2023, the Order No. 274n “On the approval of the Procedure for providing medical care to patients with congenital and/or hereditary diseases” has extended the scope of neonatal screening. The expanded newborn screening (ENS) includes detection of 36 nosological conditions. Among these, inborn errors of immunity (IEI) represent a significant and still extending group of genetic disorders characterized by increased susceptibility to infections due to underlying immunopathological mechanisms. At the initial stage, quantitative determination of T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) is performed for all newborns in order to identify individuals at risk and initiate confirmatory diagnostics. This approach enables the detection of IEI before the onset of clinical symptoms. This article presents and analyzes the results of ENS program for IEI conducted at the Northwestern Federal District (NWFD) during the period from 2023 to 2024. Over this two-year period, a total of 209,741 newborns were screened at the NWFD. Among them, 818 newborns (0.39% of those screened) were classified as high-risk IEI cases. The immunodeficiency states were identified for 45 children as based on immunophenotyping of peripheral blood lymphocytes (IFT), and genetic causes of the condition were confirmed in 49% of these cases. Statistical analysis revealed associations between gestational age and birth weight with TREC levels, and, to lesser extent, with KREC levels. The reference intervals were established for defined subgroups of neonates. These findings highlight the importance of continuous observation of newborns classified as moderate-risk cases. Notably, 9% of all screened individuals were designated as “conditionally healthy,” despite having TREC or KREC values below the lower reference limit. Based on the obtained data, the models for optimizing the screening program for IEI were proposed. These findings contribute to earlier diagnosis and more effective management of patients with immune disorders, as well as enhanced personalization of therapeutic strategies. Establishing population-based reference intervals plays a key role in standardizing methods for diagnostics and monitoring the immune system, thus representing an important step in overall advances of healthcare.

About the authors

Anastasiia Y. Lobenskaya

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Author for correspondence.
Email: lobenskaya@mail.ru
ORCID iD: 0000-0002-6399-2962
Scopus Author ID: 57217072426

Doctor of Clinical Laboratory Diagnostics, Head, Laboratory of Biochemistry

Russian Federation, St. Petersburg

Anastasia K. Petrichenko

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: AKPetrich.ko@gmail.com
ORCID iD: 0000-0002-3564-4688
SPIN-code: 2363-8850

Doctor of Clinical Laboratory Diagnostics

Russian Federation, St. Petersburg

Tanzila U. Evloeva

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: evloeva.tanzila94@mail.ru
ORCID iD: 0009-0005-8530-7830

Doctor of Clinical Laboratory Diagnostics

Russian Federation, St. Petersburg

Anastasia A. Kruglikova

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: a.a.kruglikova@yandex.ru
ORCID iD: 0000-0002-3809-7229
SPIN-code: 3338-2299
Scopus Author ID: 54385447000

PhD (Biology), Biologist

Russian Federation, St. Petersburg

Elena A. Serebryakova

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: el.a.serebryakova@mail.ru
ORCID iD: 0000-0001-5602-0156
SPIN-code: 9819-8823
Scopus Author ID: 57194720059

Medical Geneticist of the highest Qualification Category, Head, Consultative Department

Russian Federation, St. Petersburg

Elena A. Yalfimova

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: yal-lena@yandex.ru
ORCID iD: 0009-0007-9405-653X
SPIN-code: 5649-4471

Deputy Chief Physician for Clinical and Expert Work

Russian Federation, St. Petersburg

Andrey V. Marakhonov

N. Bochkov Medical and Genetic Research Center

Email: marakhonov@generesearch.ru
ORCID iD: 0000-0002-0972-5118
SPIN-code: 6803-9072
Scopus Author ID: 24559127100

PhD (Biology), Head, Laboratory of Hereditary Immune Disorders

Russian Federation, Moscow

Margarita O. Massalskaya

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: bezdna86@list.ru
ORCID iD: 0009-0004-3428-2349

Biologist

Russian Federation, St. Petersburg

Anastasia O. Vechkasova

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: vechkasova.nastia@mail.ru
ORCID iD: 0009-0004-8775-9630
SPIN-code: 2642-3514
Scopus Author ID: 58532200600

Geneticist

Russian Federation, St. Petersburg

Antonina Y. Morozova

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: amor2703@gmail.com
ORCID iD: 0009-0008-2325-611X

Biologist

Russian Federation, St. Petersburg

Alexander L. Koroteev

St. Petersburg State Medical Diagnostic Center (Genetic Medical Center)

Email: alexkoroteev@mail.ru
ORCID iD: 0000-0002-1568-3217
SPIN-code: 8702-6057
Scopus Author ID: 57211485833

PhD (Medicine), Chief Freelance Specialist in Medical Genetics of the St. Petersburg Health Committee and the Ministry of Health of the Russian Federation in the Northwestern Federal District, Chief Physician

Russian Federation, St. Petersburg

Irina A. Tuzankina

Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; B. Yeltsin Ural Federal University

Email: ituzan@yandex.ru
ORCID iD: 0000-0001-7496-0950
SPIN-code: 8480-3628
Scopus Author ID: 6507111269

PhD, MD (Medicine), Professor, Honored Scientist of the Russian Federation, Chief Researcher, Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; Leading Researcher, Chemical Technology Institute, B. Yeltsin Ural Federal University

Russian Federation, Yekaterinburg; Yekaterinburg

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Copyright (c) 2026 Lobenskaya A.Y., Petrichenko A.K., Evloeva T.U., Kruglikova A.A., Serebryakova E.A., Yalfimova E.A., Marakhonov A.V., Massalskaya M.O., Vechkasova A.O., Morozova A.Y., Koroteev A.L., Tuzankina I.A.

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