Clinical case of primary immunodeficiency: X-linked agammaglobulinemia

E. V. Kuvschinova; L. M. Kurtasova; A. G. Borisov; A. R. Schmidt; T. A. Gerasimova

doi:10.15789/1563-0625-CCO-1837

Clinical case of primary immunodeficiency: X-linked agammaglobulinemia

E. V. Kuvschinova, L. M. Kurtasova, A. G. Borisov, A. R. Schmidt, T. A. Gerasimova

https://doi.org/10.15789/1563-0625-CCO-1837

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Abstract

Aclinical case ofprimary immunodeficiency state (PIDS) is described: X-linked agammaglobulinemia in the boy of 8 years old. The results of molecular genetic studies: gene btk (ex 1-19) genome version GRCh38.p5, transcript version ENST00000308731 single nucleotide substitution identified с.1027С > Т in homozygous state leading to premature stop codon p.Gln343Ter (p.Q343*). The presented clinical case reflects the low alertness of pediatricians for PIDS. At the same time, a delay in diagnosis and prescription of treatment aggravates the prognosis of the disease course and reduces the quality of the patient life.

Keywords

primary immune deficiency state, B cells, immunoglobulins, agammaglobulinemia

About the Authors

E. V. Kuvschinova

Research Institute of Medical Problems of the North, Krasnoyarsk Science Center, Siberian Branch, Russian Academy of Sciences
Russian Federation

Allergist-Immunologist, IIChildren’s Department, Pulmonary-Allergological Center.

Krasnoyarsk

Competing Interests: нет

L. M. Kurtasova

Krasnoyarsk State V. Voyno-Yasenetsky Medical University
Russian Federation

Kurtasova Ludmila M. - PhD, MD (Medicine), Professor, Department of Clinical Immunology.

660022, Krasnoyarsk, Partizan Zheleznyak str., 1, Phone: 7 (391) 220-13-95, Fax: 7 (391) 221-16-38

Competing Interests: not

A. G. Borisov

Research Institute of Medical Problems of the North, Krasnoyarsk Science Center, Siberian Branch, Russian Academy of Sciences
Russian Federation

PhD (Medicine), Leading Research Associate, Cellular-Molecular Physiology and Pathology Laboratory.

Krasnoyarsk

Competing Interests: not

A. R. Schmidt

Krasnoyarsk Regional Center for Prevention and Control of AIDS
Russian Federation

Schmidt A.R., Pediatrician, Medical Advisory Department.

Krasnoyarsk

Competing Interests: not

T. A. Gerasimova

Research Institute of Medical Problems of the North, Krasnoyarsk Science Center, Siberian Branch, Russian Academy of Sciences
Russian Federation

Head, IIChildren’s Department, Pulmonary-Allergological Center, Research Institute of Medical Problems of the North.

Krasnoyarsk
Competing Interests: not

References

1. Kondratenko I.V. Primary Immunodeficiencies. Meditsinskaya immunologiya = Medical Immunology (Russia), 2005, Vol. 7, no. 5-6, pp. 467-476. (In Russ.) doi: 10.15789/1563-0625-2005-5-6-467-476.

2. Korsunskiy I.A., Gordukova M.A., Kozlov I.G., Prodeus A.P., Korsunskiy A.A. Clinical and epidemiological aspects of primary immunodeficiency diseases PID and early diagnosis options. Meditsinskaya immunologiya = Medical Immunology (Russia), 2017, Vol. 19, no. 5, pp. 505-512. (In Russ.) doi: 10.15789/1563-0625-2017-5-505-512.

3. Kuzmenko N.B., Shcherbina A.Yu. Classification of primary immunodeficiencies as a reflection of modern ideas abonttheir pathogenesis and therapeutic approaches. Rossiyskiy zhurnal detskoy gematologii i onkologii = Russian Jurnal of Pediatric Hematology and Oncology, 2017, Vol. 4, no. 3, pp. 51-57. (In Russ.)

4. Wang Y., Kanegane H., Sanal O., Ersoy F., Tezcan I., Futatani T., Tsukada S., Miyawaki T. Bruton tyrosine kinase gene mutations in Turkish patents with presumed X-linked agammaglobulinemia. Hum. Mutat., 2001, Vol. 18, no. 4, p. 356.

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For citations:

Kuvschinova E.V., Kurtasova L.M., Borisov A.G., Schmidt A.R., Gerasimova T.A. Clinical case of primary immunodeficiency: X-linked agammaglobulinemia. Medical Immunology (Russia). 2020;22(2):379-382. (In Russ.) https://doi.org/10.15789/1563-0625-CCO-1837

This work is licensed under a Creative Commons Attribution 4.0 License.

ISSN 1563-0625 (Print)
ISSN 2313-741X (Online)

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	Title	Литература
	Date	2019-07-25

	Title	Метаданные
	Date	2019-07-25

	Title	Подписи авторов
	Date	2019-07-25

	Title	Резюме
	Date	2019-07-25

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Medical Immunology (Russia)

Clinical case of primary immunodeficiency: X-linked agammaglobulinemia

Full Text:

Abstract

Keywords

About the Authors

References

Supplementary files

Review

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