Difficulties in diagnosing chronic granulomatous disease in early childhood
https://doi.org/10.25789/YMJ.2026.93.28
Abstract
This article presents a clinical case of a rare hereditary disease – primary immunodeficiency – X-linked chronic granulomatous disease. The complexity of diagnosis is due to the relatively low prevalence of the disease in the population, low awareness and insufficient awareness among pediatricians regarding primary immunodeficiency conditions, an underestimation of the significance of clinical data, the lack of specific laboratory markers for immunodeficiency, and the need for modern molecular genetic diagnostics. Late diagnosis and severe disease progression require multifaceted treatment, significantly reducing the quality of life and life expectancy of young children.
About the Authors
O. A. Genova
ФГБОУ ВО «Дальневосточный государственный медицинский университет Министерства здравоохранения Российской Федерации»
Russian Federation
Russian Federation
E. A. Ulyanova
ФГБОУ ВО «Дальневосточный государственный медицинский университет Министерства здравоохранения Российской Федерации»;
КГБУЗ «Детская краевая клиническая больница им. А.К. Пиотровича» Министерства здравоохранения Хабаровского края
Russian Federation
Russian Federation
L. N. Ashina
КГБУЗ «Детская краевая клиническая больница им. А.К. Пиотровича» Министерства здравоохранения Хабаровского края
Russian Federation
Russian Federation
O. N. Chernyshova
КГБУЗ «Детская краевая клиническая больница им. А.К. Пиотровича» Министерства здравоохранения Хабаровского края
Russian Federation
Russian Federation
References
1. Mukhina A.A., Kuzmenko N.B., Rodina Yu.A., Yukhacheva D.V., et al. Congenital Immunity Defects: A Look at the Problem in 2025. Pediatrics Today. 2025; 2 (42): 1-2 (In Russian). URL: www.medvedomosti.media/pediatry(15.09.2025).
2. Sermyagina I.G., Zabnenkova V.V., Shchagina O.A., Polyakov A.V. DNA Diagnostics of X-Linked Chronic Granulomatous Disease. Medical Genetics. 2019; 18(4):47-51 (In Russian). DOI: 10.25557/2073-7998.2019.04.47-51
3. Burlutskaya A.V., Statova A.V., Savelyeva N.V., Tril V.E., et al. Clinical Cases of Primary Immunodeficiencies in Children. International Research Journal. No. 5 (143): 1-7 (In Russian). DOI: https://doi.org/10.60797/IRJ.2024.143.97
4. Marciano B.E., Spalding C., Fitzgerald A., et al. Common severe infections in chronic granulomatous disease. Clin Infect Dis. 2015 Apr 15; 60 (8): 1176–83.
5. Kalandarova A.N., Zhiemuratova G.K., Ismailova A.A., Matkarimova A.A. Clinical and epidemiological aspects of primary immunodeficiencies in the Republic of Karakalpakstan. Russian Immunological Journal. 2024; 27(3): 567-572 (In Russian). doi: 10.46235/1028-7221-16883-CAE.
6. Voronin S.V., Kutsev S.I. Neonatal Screening for Hereditary Diseases in Russia: Yesterday, Today, and Tomorrow. Neonatology: News, Opinions, and Training. 2022; 10 (4): 34–39 (In Russian) DOI: https://doi.org/10.33029/2308-2402-2022-10-4-34-39,
7. Mukhina A.A., Kuzmenko N.B., Rodina Yu.A., Kondratenko I.V., Bologov A.A. Characteristics of Patients with Primary Immunodeficiency Conditions in the Russian Federation: From Birth to Old Age. Pediatrics named after G.N. Speransky. 2019; 98 (3): 24-31 (In Russian).
8. Rae J., et al. X-Linked Chronic Granulomatous Disease: Mutations in the CYBB Gene Encoding the gp91-Phox Component of Respiratory-Burst Oxidase. American Journal of Human Genetics. 1998; 62.6:1320–1331.
9. Muise AM, Xu W, Guo CH, Walters TD, Wolters et al. NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2. 2012;61(7):1028–1035. doi: 10.1136/gutjnl-2011-300078.
10. Dhillon SS, Fattouh R, Elkadri A, Xu W, at al. Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease. Gastroenterology. 2014;147(3):680–689.e2. doi: 10.1053/j.gastro.2014.06.005.
11. Stasia M.J., et al. Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. Hum Genet. 2005.
Review
For citations:
Genova O.A., Ulyanova E.A., Ashina L.N., Chernyshova O.N. Difficulties in diagnosing chronic granulomatous disease in early childhood. Yakut Medical Journal. 2026;(1):133-136. https://doi.org/10.25789/YMJ.2026.93.28
Views:
124
JATS XML
Email this article 