Clinical case of early debut of Louis-Bar syndrome in a child
https://doi.org/10.25789/YMJ.2021.75.29
Abstract
The article represents a clinical case of Louis-Bar syndrome, which once again confirms that pediatricians should be alert to genetic disorders when revealing signs of immunodeficiency. Immunoassay examination is of extreme importance in early diagnosis of primary immunodeficiency and prompt appointment of substitution therapy.
About the Authors
O. N. Ivanova
Medical institute of the North-Eastern federal university
Russian Federation
Russian Federation
Ivanova Olga Nikolaevna – MD, professor of the department of pediatrics and pediatric surgery
O. A. Golikova
Republican hospital #1 National health center of the Republic of Sakha (Yakutia)
Russian Federation
Russian Federation
Golikova Oksana Afanasievna – PhD, a head of the pediatric consultative department
T. E. Burtseva
Medical institute of the North-Eastern federal university;
Yakutsk science center of complex medical problems
Russian Federation
Russian Federation
Burtseva Tatiana Yegorovna – MD, professor of the department of pediatrics and pediatric surgery;
head of the laboratory
I. S. Ivanova
Medical institute of the North-Eastern federal university
Russian Federation
Russian Federation
Ivanova Irina Semyonovna – a 1st year-student of the faculty of General medicine
M. P. Slobodchikova
St. Petersburg state pediatric medical university
Russian Federation
Russian Federation
Slobodchikova Maya Pavlovna – a senior lecturer of the department of foreign languages with the courses of Russian and Latin languages
References
1. Kirichenko E. N. Sindrom Lui-Bar: [Electronic resource] // GENOKARTA Genetic encyclopedia. 2019. – URL: https://www.genokarta.ru/disease/Sindrom_Lui_Bar. (1)
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3. Clinical case of Louis-Bar syndrome / G.B. Kardanova, A.R. Smagulova, G.A. Mukhambetova [et al.] //Bulletin of the Kazakh National Medical University.- 2015. - No. 3. - P. 79-82.
4. Mosaic aneuploidy in brain cells in ataxia-telangiectasia (Louis-Bar syndrome)/I. Yu.Yu., S.G. Vorsanova, A.D. Kolotiy [et al.] // Medical Genetics.- 2008. - Vol. 7, № 7 (73).- P. 22-26.
5. The case of early diagnosis of the Louis-Bar syndrome / N.V. Minaeva, A.A. Falina, L.I. Cheremnykh [et al.] // Pediatrics. The journal named after G. N. Speransky.- 2017. - Vol. 96. - No. 5. - P. 195-197.
Review
For citations:
Ivanova O.N., Golikova O.A., Burtseva T.E., Ivanova I.S., Slobodchikova M.P. Clinical case of early debut of Louis-Bar syndrome in a child. Yakut Medical Journal. 2021;(3):114-115. https://doi.org/10.25789/YMJ.2021.75.29
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