Year: 2024
Type: article
Study design: Case Report
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.
Authors: M. D. Shilova, A. S. Novichikhina, S. N. Novoselova, T. A. Bokova
Institution: Pirogov Russian National Research Medical University
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4403619286