RESULTS OF EXAMINATION OF CHILDREN OF THE UDMURT REPUBLIC FOR PRIMARY IMMUNODEFICIENCIES
DOI: 10.22138/2500-0918-2025-22-3-270-278
N.I. Penkina¹, N.N. Ermolaeva², A.D. Yuditskiy¹, A.P. Prodeus³
¹FSBEI of Higher Education «Izhevsk State Medical Academy»
of the Ministry of Health of the Russian Federation, Izhevsk, Russian Federation;
²BHI of the Udmurt Republic «Republican Children’s Clinical Hospital»
of the Ministry of Health of the Udmurt Republic, Izhevsk, Russian Federation;
³State Budgetary Healthcare Institution of the Moscow Region “Research Institute of Childhood of the Ministry of Health of the Moscow Region”, Moscow Region, Russian Federation
Abstract. The aim of the study is to analyze the results of examination of children of the UdmurtRepublic for primary immunodeficiencies, to determine patients of risk groups related to the “gray zone” according to the data of extended neonatal screening. Materials and methods. The examination of children of the Udmurt Republic for primary immunodeficiencies in 2022-2024 included several stages. In 2022, 43 children born in 2019-2021 were examined using dried blood spots taken in the neonatal period for neonatal screening. In 2023-2024, 219 children at risk were examined for PID (jointly with the Sunflower Foundation). During 2023-2024, 24, 622 newborns were examined as part of the expanded neonatal screening (the study was conducted at the Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation). In 2024, 12 premature infants with ELBW and VLBW were examined for PID. In 2024, 14,530 newborns born in 2021 were examined using dried blood spots of neonatal screening (the study was conducted at the N.P.Bochkov Research Center for Medical Genetics). To diagnose congenital immune errors, TREC and KREC DNA were determined in blood samples (dried spots or venous blood) (a reagent kit for the quantitative determination of TREC and KREC DNA by real-time polymerase chain reaction, ABV-TEST LLC, Russia). Results. The study showed the feasibility of conducting all stages of examining children for primary immunodeficiencies. At all stages of the research, primary immunodeficiencieswere diagnosed in children at risk, which made it possible to start pathogenetic therapy in a timely manner. During the extended neonatal screening, a «gray zone» problem was identified, which is characterized by the presence of TREC and KREC values above the established threshold (≥100 copies per 10⁵ cells), but below the reference value (TREC – 450 copies per 10⁵ cells). Patients in this group have a high risk of early implementation of severe diseases developing in children with primary immunodeficiency. Children classified in this category require repeated determination of TREC and KREC values, dynamic observation by a pediatrician, immunologist and other specialists.
Keywords: children, primary immunodeficiencies, neonatal screening, TREC, KREC
There is no conflict of interest.
Contact information of the author responsible for correspondence:
Nadezhda I. Penkina
nad.penkina@yandex.ru
Recieved 24.04.2025
For citation: Penkina N.I., Ermolaeva N.N., Yuditskiy A.D., Prodeus A.P. Results of examination of children of the Udmurt Republic for primary immunodeficiencies. [Online] Vestn. Ural. Med. Akad. Nauki. = Journal of Ural Medical Academic Science. 2025, Vol. 22, no. 3, pp. 270–278. DOI: 10.22138/2500-0918-2025-22-3-270-278 (In Russ)
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Authors
Nadezhda I. Penkina
Federal State Budgetary Educational Institution of Higher Education “Izhevsk State Medical Academy” of the Ministry of Health of the Russian Federation
Doctor of Medical Sciences, Professor of the Department of Pediatrics and Neonatology
nad.penkina@yandex.ru
ORCIDID: 0000-0003-4427-3900
Izhevsk, Russian Federation
Natalya N. Ermolaeva
State Healthcare Institution of the Udmurt Republic “Republican Children’s Clinical Hospital” of the Ministry of Health of the Udmurt Republic
Deputy Chief Physician for Organizational and Methodological Work, Chief Pediatrician of the Ministry of Health of the Udmurt Republic
ermolaeva-rdkb@mail.ru
ORCIDID:0000-0001-9463-7384
Izhevsk, Russian Federation
Anton D. Yuditsky
Federal State Budgetary Educational Institution of Higher Education “Izhevsk State Medical Academy” of the Ministry of Health of the Russian Federation
MD, PhD, Associate Professor of the Department of Pediatrics and Neonatology, Chief Specialist of the Ministry of Health of the Udmurt Republic in Neonatology
antonyud103ped@mail.ru
ORCIDID: 0000-0001-8547-8158
Izhevsk, Russian Federation
Andrey P. Prodeus
State Budgetary Healthcare Institution of the Moscow Region “Research Institute of Childhood of the Ministry of Health of the Moscow Region”
Doctor of Medical Sciences, Professor, Chief Pediatric Allergist-Immunologist of the Ministry of Health of the Moscow Region
prodeus@mail.ru
ORCIDID 0000-0001-5435-1859
Moscow Region, Russian Federation