Primary immunodeficiency in children: agammaglobulinemia (Bruton’s disease)
https://doi.org/10.31146/1682-8658-ecg-226-6-229-232
Abstract
Primary Immunodeficiencies (PID) are a group of congenital immune system disorders caused by the loss, reduction, or impaired functioning of one or more components of the immune system. This article presents a detailed characterization of Bruton’s disease, the most common manifestation of inherited agammaglobulinemia, as well as modern approaches to its diagnosis and treatment. A clinical observation of the manifestation of primary immunodeficiency in a 3-year-old boy is described, while the diagnosis of “Primary Immunodeficiency: Bruton’s disease” was only established at the age of 8. The results of an 8-year follow-up of the patient are presented, and the difficulties of early diagnosis are analyzed. It is shown that a sequential diagnostic search allowed for the diagnosis of PID and the determination of the appropriate therapeutic strategy.
About the Authors
M. D. Shilova
N. I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
A. S. Novichikhina
N. I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
S. N. Novoselova
N. I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
T. A. Bokova
N. I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
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Review
For citations:
Shilova M.D., Novichikhina A.S., Novoselova S.N., Bokova T.A. Primary immunodeficiency in children: agammaglobulinemia (Bruton’s disease). Experimental and Clinical Gastroenterology. 2024;(6):229-232. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-226-6-229-232
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