Clinical observation of a 5-year-old patient with chronic granulomatous disease associated with a mutation in the CYBB gene

Chronic granulomatous disease is a congenital primary immunodeficiency caused by a genetic defect of phagocytosis, characterized by the inability of leukocytes to synthesize reactive oxygen species and phagocytize microorganisms due to a defect in the enzyme NADP oxidase, which leads to a high susceptibility of the patient to bacterial and fungal infections. The frequency of occurrence of this pathology ranges from 1:100 thousand to 1:200 thousand people. In about 60% of cases, the disease is inherited linked to the X chromosome, and in 40% it is autosomal recessive. The most common and frequently occurring form is X-linked chronic granulomatous disease caused by a mutation of the CYBB gene, which explains the significantly higher prevalence of the disease in males. Chronic granulomatous disease is characterized by recurrent infections of any organ (lungs, skin, liver, lymph nodes, urinary system, intestines) with the formation of inflammatory granulomas, abscesses and fistulas; the development of severe pneumonia with extensive damage to the lung tissue involving the pleura. The article presents data on the prevalence, clinical manifestations and treatment of chronic granulomatous disease, as well as own clinical observation of the course of this disease in a 5-year-old child. The difficulties of diagnosing a primary immunodeficiency condition in routine pediatric practice are described, when the pediatrician must include primary immunodeficiency in the differential diagnosis plan