Primary immunodeficiency in children: agammaglobulinemia (Bruton’s disease)

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.