Difficulties in diagnosis of chronic granulomatous disease in a 10-year-old child

Abstract

Objective: to familiarize doctors with one of the rare variants of primary immunodeficiency – chronic granulomatous disease. The authors present a case of late diagnosis of chronic granulomatous disease in a 10-year-old child. The doctors missed the development of complications after BCG vaccination in the form of axillary lymphadenitis on the left (BCGitis), which led to the development of disseminated BCG infection, regarded as an infectious tuberculous process. The onset of chronic granulomatous disease occurred at the age of 10 months (paraproctitis complicated by an anal fistula). The assumption of the presence of immunodeficiency arose in connection with the recurrent course of pneumonia at the age of 4-5 years, but was regarded as a manifestation of a tuberculous infectious process. At the age of 8, during the protracted course of nonspecific polysegmental pneumonia, primary immunodeficiency without specific clinical form was diagnosed on the basis of the results of a comprehensive immunological examination. At the age of 10, chronic granulomatous disease was verified using a study of spontaneous and stimulated chemiluminescence of neutrophils and the results of a genetic study.

A clinical case of disseminated BCG infection with a fatal outcome

“…нью (ХГБ), тяжелой комбинированной иммунной недостаточностью (ТКИН) и другими первичными иммунодефицитами [4][5][6]. Важной проблемой является развитие БЦЖ-ассоциированных осложнений, в том числе генерализованных, у пациентов после трансплантации гемопоэтических стволовых клеток [7].…”