DNA-diagnosis of X-linked chronic granulomatous disease

Abstract

Chronic granulomatous disease (CGD) is a hereditary disease belonging to the group of primary immunodeficiencies with impaired phagocytosis function. The most frequent is the X-linked form of CGB, which develops as a result of a molecular defect arising in the CYBB gene. The article presents the results accumulated in the Laboratory of DNA Diagnostics of the Medical Genetic Research Center during the molecular diagnosis of X-linked CGD in patients from different regions of Russia.