Approaches to the diagnosis of immunodeficiency disorders in children with Down syndrome
https://doi.org/10.53529/2500-1175-2025-3-56-65
Abstract
Relevance. Down syndrome is one of the most common genetic diseases worldwide. People with this syndrome are at risk for developing immunodeficiency conditions. The article discusses the results of a study of TREC and KREC concentrations in children with Down syndrome.
The aim of the study was to determine the concentration of TREC and KREC in children with Down syndrome compared with healthy children.
Materials and methods. A prospective study was conducted to determine the content of TREC and KREC in the bloo d of children and adolescents with Down syndrome.
Results. It was found that the co ncentration of TREС in children with Down syn drome is significantly lower than in healthy children of the appropriate age, which indicates a violation in the development of the T-cell link of immunity. A similar pattern is observed for KREС levels, which indicates a violation of the maturation of B-lymphocytes responsible for the synthesis of antibodies.
Conclusion. This study highlights the importance of early diagnosis and monitoring of the immune status in children with Down syndrome by determining the conc entration of TREС and KREС, which will allow timely corrective measures and prevent the development of complications.
About the Authors
A. Yu. ChirkovaRussian Federation
Anna Yurievna Chirkova, Assistant
department of Faculty and Polyclinic Pediatrics
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
E. G. Novopoltseva
Russian Federation
Ekaterina Gennadievna Novopoltseva, Dr. Sci., professor, head of the department
department of Faculty and Polyclinic Pediatrics
603005; pl. Minina and Pozharsky, 10/1; 603136; Vaneeva St., 211; Nizhny Novgorod Region; Nizhny Novgorod
A. A. Tarasova
Russian Federation
Alla Anatolyevna Tarasova, Dr. Sci., professor
department of Faculty and Polyclinic Pediatrics
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
K. Yu. Ozhgikhin
Russian Federation
Kirill Yurievich Ozhgikhin, 3rd year student
Faculty of Medicine
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
A. S. Veselova
Russian Federation
Alina Sergeevna Veselova, 6th year pediatrics student
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
I. D. Morozov
Russian Federation
Ivan Dmitrievich Morozov, 6th year pediatrics student
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
U. A. Klokova
Russian Federation
Uliana Alexandrovna Klokova, 6th year pediatrics student
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
H. F. Aksyanova
Russian Federation
Hasyanya Fatihovna Aksyanova, Head of the consultation, geneticist
medical and genetic consultation
603136; Vaneeva St., 211; Nizhny Novgorod Region; Nizhny Novgorod
N. Yu. Smelikova
Russian Federation
Nina Yurievna Smelikova, Deputy Chief Physician for Consultative and Diagnostic Care
603136; Vaneeva St., 211; Nizhny Novgorod Region; Nizhny Novgorod
E. Yu. Baskakova
Russian Federation
Evgenia Yurievna Baskakova, Cand. Sci, associate professor
department of Faculty and Polyclinic Pediatrics
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
E. M. Kozlova
Russian Federation
Elena Mikhailovna Kozlova, Dr. Sci., professor
department of Faculty and Polyclinic Pediatrics
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
E. E. Larionova
Russian Federation
Evgenia Evgenievna Larionova, Cand. Sci, associate professor
department of Faculty and Polyclinic Pediatrics
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
E. Yu. Shumskaya
Russian Federation
Ekaterina Yurievna Shumskaya, Assistant, Head of the Department, neonatologist
department of Faculty and Polyclinic Pediatrics; Department of Pathology of Newborns and Premature Infants
603005; pl. Minina and Pozharsky, 10/1; 603136; Vaneeva St., 211; Nizhny Novgorod Region; Nizhny Novgorod
M. A. Pakhomova
Russian Federation
Maria Andreevna Pakhomova, 3rd year student
Faculty of Medicine
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
A. N. Krylova
Russian Federation
Anastasia Nikolaevna Krylova, graduate student
department of Faculty and Polyclinic Pediatrics
603005; pl. Minina and Pozharsky, 10/1; Nizhny Novgorod Region; Nizhny Novgorod
References
1. Volodin N.N., Demikova N. S., Asanov A.Yu., Podolnaya M.A., Lapina A.S.. Trisomy 21 (Down syndrome) incidence dynamics in the regions of the Russian Federation in 2011–2017. Pediatria n. a. G.N. Speransky. 2019; 98 (2): 43–48. (In Russ.)
2. Chirkova A.Yu., Novopolceva Ye.G., Tarasova A.A., et al. Retrospective epidemiological analysis of incidence Down syndrome in the Nizhny Novgorod region. Treatment and prevention. 2024; 14 (2): 22–29. (In Russ.)
3. Beljashova M.A., Gitinov S.A., Ovsyannikov D.Y. Respiratory manifestations of Down syndrome. Pediatrician (SPb). 2016; 15; 7 (2): 164–9. (In Russ.) doi: 10.17816/PED72164-169.
4. Amir-Zade K.A., Delyagin V.M. Recurrent Respiratory Infections in Children with Down syndrome. Effective pharmacotherapy. Epidemiology and infections. 2024; 20 (11): 28–30. (In Russ.)
5. Trotta M.B., Serro Azul J.B., Wajngarten M. et al. Inflammatory and Immunological parameters in adults with Down syndrome. Immunity and Ageing. 2011; 8 (4). doi: 10.1186/1742-4933-8-4.
6. Ribeiro M.G., Estefan J.L., Higino K., et al. Immunological Profile of Patients Presenting Down syndrome and Alopecia Areata. Advanced Techniques in Biology and Medicine. 2015; 3: 123. doi: 10.4172/2379-1764.1000123.
7. Ram G., Chinen J. Infections and immunodeficiency in Down syndrome. Clinical Experimental Immunology. 2011; 164 (1): 9–16. doi: 10.1111/j.1365-2249.2011.04335.x.
8. Lima Estefan J., Queiroz M., Costa F.F., et al. Clinical characteristics of alopecia areata in Down syndrome. Acta Dermatovenerol Croat. 2013; 21 (4): 253–258.
9. Khaplina1 S.P., Kharit S.М., Skripchenko N.V. Features of the Immunological Status of Children with Down syndrome. Epidemiology and Vaccinal Prevention. 2012; 3 (64): 61–70. (In Russ.)
10. Şentürk G., Ng Y.Y., Eltan S.B., et al. Determining T and B cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls. Scandinavian Journal of Immunology. 2022; 95: e13130. doi: 10.1111/sji.13130.
11. Medova V., Hulinkova I., Laiferova N., et al. The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients. Clinical Immunology. 2022; 245: 109155. doi: 10.1016/j.clim.2022.109155.
12. Marakhonov A., Mukhina A., Vlasova E. et al. Decreased TREC and KREC levels in newborns with trisomy 21. Frontiers Pediatrics. 2024; 12: 1468635. doi: 10.3389/fped.2024.1468635.
13. Roizen N.J., Patterson D. Down’s syndrome. Lancet. 2003; 361 (9365): 1281–1289. doi: 10.1016/S0140-6736(03)12987-X.
14. Alexander M., Petri H., Ding Y., et al. Morbidity and medication in a large population of individuals with Down syndrome compared to the general population. Developmental Medicine Child Neurology. 2016; 58 (3): 246–254. doi: 10.1111/dmcn.12868.
15. Marilyn J.B., Tracy T., Stephanie L., et al. Health Supervision for Children and Adolescents with Down syndrome. Pediatrics. 2022; 149 (5): e2022057010. doi: 10.1542/peds.2022-057010.
16. Wilson L. Perspectives in Prevention from the American College of Preventive Medicine. Preventive Care for Adults with Down syndrome. 2014. Available from: http://www.medscape.org/viewarticle/715382.
17. Verstegen R.H., Borte S., Bok L.A., et al. Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases. Jaci Allergy Clinical Immunology. 2014; 133 (4): 1208–1211. doi: 10.1016/j.jaci.2013.10.010.
18. Prada N., Nasi M., Troiano L. et al. Direct analysis of thymic function in children with Down’s syndrome. Immunity and Ageing. 2005; 2 (4). doi: 10.1186/1742-4933-2-4.
19. Marcovecchio G.E., Bortolomai I., Ferrua F., et al. Thymic epithelium abnormalities in digeorge and Down syndrome patients contribute to dysregulation in T cell development. Frontiers Immunology. 2019; 10: 447. doi: 10.3389/fimmu.2019.00447.
20. Eissa E., Afifi H.H., Abo-Shanab A.M. et al. Importance of TREC and KREC as molecular markers for immunological evaluation of Down syndrome children. Scientific Reports. 2023; 13: 15445. doi: 10.1038/s41598-023-42370-0.
Review
For citations:
Chirkova A.Yu., Novopoltseva E.G., Tarasova A.A., Ozhgikhin K.Yu., Veselova A.S., Morozov I.D., Klokova U.A., Aksyanova H.F., Smelikova N.Yu., Baskakova E.Yu., Kozlova E.M., Larionova E.E., Shumskaya E.Yu., Pakhomova M.A., Krylova A.N. Approaches to the diagnosis of immunodeficiency disorders in children with Down syndrome. Allergology and Immunology in Paediatrics. 2025;(3):56-65. (In Russ.) https://doi.org/10.53529/2500-1175-2025-3-56-65