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Features of the immune status and immunometabolism in pediatric patients with type 3 Gaucher disease

https://doi.org/10.53529/2500-1175-2025-4-96-100

About the Authors

M. V. Konyashin
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1



O. V. Kurbatova
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1



G. B. Movsisyan
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1



S. V. Petrichuk
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1



T. V. Radygina
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1



D. G. Kuptsova
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1



E. L. Semikina
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation; The State Education Institution of Higher Professional Training “The First Sechenov Moscow State Medical University” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1

119991, Moscow, st. Trubetskaya, d. 8, building 2



A. S. Potapov
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation; The State Education Institution of Higher Professional Training “The First Sechenov Moscow State Medical University” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1

119991, Moscow, st. Trubetskaya, d. 8, building 2



A. P. Fisenko
Federal State Autonomous Institution “National Medical Research Center for Children’s Health” of the Ministry of Health of the Russian Federation
Россия

119991, Moscow, Lomonosovsky prospect, 2, building 1



References

1. Feng S. et al. A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach. International Journal of Biological Sciences. 2024; 20 (6): 2111. https://doi.org/10.7150/ijbs.87741.

2. Stirnemann J.Ô., Belmatoug N., Camou F., Serratrice C., Froissart R., Caillaud C., Levade T., Astudillo L., Serratrice J., Brassier A., Rose C., Villemeur T.B.D., Berger M.G. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International Journal of Molecular Sciences. 2017; 18 (2): 1–30. https://doi.org/10.3390/ijms18020441.

3. den Hollander B. et al. Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review. Molecular Genetics and Metabolism. 2024: 108556. https://doi.org/10.1016/j.ymgme.2024.108556.

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6. Szymańska K., Krasnoborska J., Samojedny S., Superson M., Szmyt K., Walczak K., Wilk-Trytko K., Zarębski Ł. Gaucher’s Disease — current state of knowledge and future perspectives? Journal of Education, Health and Sport. 2024; 64 (1): 131–148. https://doi.org/10.12775/JEHS.2024.64.009.

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8. Klein A.D., Outeiro T.F. Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria. Nature Communications. 2023; 14 (1): 13. https://doi.org/10.1038/s41467-023-42107-7.

9. Baden P., Perez M. J., Raji H., Bertoli F., Kalb S., Illescas M., Spanos F., Giuliano C., Calogero A. M., Oldrati M., Hebestreit H., Cappelletti G., Brockmann K., Gasser T., Schapira A.H.V., Ugalde C., Deleidi M. Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism. Nature Communications. 2023; 14 (1): 1–21 https://doi.org/10.1038/s41467-023-37454-4.

10. Chen X., Sunkel B., Wang M., Kang S., Wang T., Gnanaprakasam J.R., Wang R. Succinate dehydrogenase/complex II is critical for metabolic and epigenetic regulation of T cell proliferation and inflammation. Science immunology. 2022; 7 (70): eabm8161. https://doi.org/10.1126/sciimmunol.abm8161.

11. Shi H., Chi H. Metabolic control of Treg cell stability, plasticity, and tissue-specific heterogeneity. Frontiers in immunology. 2019; 10: 2716. https://doi.org/10.3389/fimmu.2019.02716.

12. Shemesh E., Deroma L., Bembi B., Deegan P., Hollak C., Weinreb N.J., Cox T.M. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database of Systematic Reviews. 2015; 27 (3): 3–24 https://doi.org/10.1126/sciimmunol.abm8161.

13. Nalysnyk L., Rotella P., Simeone J.C., Hamed A., Weinreb N. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017; 22 (2): 65–73. https://doi.org/10.1080/10245332.2016.1240391.

14. Zimran A., Elstein D. No justification for very high-dose enzyme therapy for patients with type III Gaucher disease. Journal of Inherited Metabolic Disease. 2007; 30 (6): 843–844. https://doi.org/10.1007/S10545-007-0783-8.

15. Kurbatova O.V., Movsisyan G.B., Konyashin M.V., Petrichuk S.V., Kuptsova D.G., Radygina T.V., Semikina E.L., Potapov A.S., Fisenko A.P. Age-related changes in the parameters of cellular immunity, the activity of intracellular lymphocyte dehydrogenases and functional activity of neutrophils in children with Gaucher disease. Pediatric Hematology/Oncology and Immunopathology. 2024; 23 (1): 128–138. (In Russ.) doi: 10.24287/1726-1708-2024-23-1-128-138.

16. Petrichuk S.V., Izmailova T.D., Radygina T.V. Method for measuring mitochondrial activity of lymphocytes. Patent for invention RUS 2302635 12/28/2005. (In Russ.) https://elibrary.ru/item.asp?id=37583426.

17. Radygina T.V., Kuptsova D.G., Kurbatova O.V., Petrichuk S.V., Semikina E.L., Fisenko A.P., Abdullaeva L.M., Bursagova B.I. Features of parameters of cellular immune depending on the activity of foci of demyelination in children with multiple sclerosis. Medical Immunology (Russia). 2023; 25 (5): 1019–1026. https://doi.org/10.15789/1563-0625-FOP-2777. (In Russ.)

18. Kuptsova D.G., Radigina T.V., Kurbatova O.V., Materikin A.I., Epishev R.V., Opryatin L.A., Khotko A.A., Murashkin N.N., Petrichuk S.V. Content of CD4+T cell subpopulations in predicting the efficacy of biological therapy for psoriasis in children. Medical Immunology (Russia). 2023; 25 (5): 1071–1078. https://doi.org/10.15789/1563-0625-COC-2704. (In Russ.)

19. Shi H., Chi H. Metabolic control of Treg cell stability, plasticity, and tissue-specific heterogeneity. Frontiers in immunology. 2019; 10: 2716. https://doi.org/10.3389/fimmu.2019.02716.


Review

For citations:


Konyashin M.V., Kurbatova O.V., Movsisyan G.B., Petrichuk S.V., Radygina T.V., Kuptsova D.G., Semikina E.L., Potapov A.S., Fisenko A.P. Features of the immune status and immunometabolism in pediatric patients with type 3 Gaucher disease. Allergology and Immunology in Paediatrics. 2025;(4):96-100. (In Russ.) https://doi.org/10.53529/2500-1175-2025-4-96-100

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ISSN 2500-1175 (Print)
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