First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia
Importantly, early diagnosis through NBS allowed for the timely initiation of disease-specific treatments, including hematopoietic stem cell transplantation (HSCT), immunoglobulin replacement therapy, and targeted immunosuppressive or supportive care strategies. Early intervention may reduce the risk of severe infections, improve neurodevelopmental outcomes, and prevent irreversible organ damage or malignancies in predisposed syndromes. Overall, our study demonstrates the effectiveness of large-scale implementation of TREC/KREC-based NBS in identifying a broad spectrum of immunodeficiencies and highlights future directions for improving NBS algorithms, follow-up protocols, and individualized medical management for affected infants.
Authors
- G. N. Seitova (ORCID: https://orcid.org/0000-0002-8421-1416)
- D Kostenko (ORCID: https://orcid.org/0009-0006-7756-4930)
- S. A. Matulevich (ORCID: https://orcid.org/0000-0002-8256-0866)
- Andrey V. Marakhonov (ORCID: https://orcid.org/0000-0002-0972-5118)
- А. Л. Коротеев (ORCID: https://orcid.org/0000-0002-1568-3217)
- Николай Сергеевич Грачев (ORCID: https://orcid.org/0000-0002-4451-3233)
- Ilya S. Zhanin (ORCID: https://orcid.org/0000-0003-1423-0379)
- D. Yu. Trofimov (ORCID: https://orcid.org/0000-0002-1569-8486)
- Maria Ampleeva (ORCID: https://orcid.org/0000-0003-2185-4753)
- Е. В. Скоробогатова (ORCID: https://orcid.org/0000-0003-4431-1444)
- Kirill V. Savostyanov (ORCID: https://orcid.org/0000-0003-4885-4171)
- Tatyana Bairova
- A. Donnikov
- Irina Efimova (ORCID: https://orcid.org/0000-0003-4672-1447)
- С. П. Воронин
- Anna Mukhinа (ORCID: https://orcid.org/0000-0002-3305-1694)
- Ж.Г. Маркова (ORCID: https://orcid.org/0000-0003-2941-2861)
- G. Bronin
- С. В. Морданов
- S.B. Zimin (ORCID: https://orcid.org/0000-0002-4514-8469)
- Sergey I. Kutsev (ORCID: https://orcid.org/0000-0002-3133-8018)
- О.А. Рыжкова (ORCID: https://orcid.org/0009-0006-9910-0678)
- Natalia Balinova (ORCID: https://orcid.org/0000-0001-9493-6544)
- Т. А. Быкова (ORCID: https://orcid.org/0000-0002-4456-2369)
- Anastasia M. Bobreshova (ORCID: https://orcid.org/0009-0001-3476-053X)
- Fanil Bilalov
- Anna Shcherbina (ORCID: https://orcid.org/0000-0002-3113-4939)
- Elena I. Nikolaeva (ORCID: https://orcid.org/0000-0002-7198-5893)
- Dmitry Pershin
- Yulia Rodina (ORCID: https://orcid.org/0000-0001-9857-4456)
- Zareta I. Esmurzieva
- Rena Zinchenko
- L. V. Olkhova
- D. Balashov
- Larisa Vakhonina
- Viktoriia Zabnenkova
- Nadezhda Shilova
Institutions
- Russian Academy of Sciences (RU)
- Rostov State Medical University (RU)
- First Pavlov State Medical University of St. Petersburg (RU)
- Pirogov Russian National Research Medical University (RU)
- Ulyanovsk Regional Clinical Hospital (RU)
- Centre de Recherche en Sciences et Technologies de l'Information et de la Communication (FR)
- Russian Children's Clinical Hospital (RU)
- Tomsk National Research Medical Center (RU)
- Scientific Center of Family Health Problems and Human Reproduction (RU)
- Research Centre for Medical Genetics (RU)
- Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology (RU)
- National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation (RU)
- Regional Children's Clinical Hospital No. 1 (RU)
- Regional Children's Hospital No1 (RU)
- Scientific Center of Children's Health (RU)
- Institute of Child and Mother Health (BD)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2026-02-06
- DOI
- https://doi.org/10.3389/fimmu.2026.1742811
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministry of Science and Higher Education of the Russian Federation