Abstract
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by impaired phagocytosis. This review summarizes available information on all patients who were diagnosed and treated in the Czech and Slovak Republic between years 1957 and 2008.
Twenty-four patients suffered from X-linked form of the disease, in 4 patients the autosomal recessive trait was detected, in 6 patients the inheritance pattern could not be defined. In 16 patients the diagnosis was proved by molecular genetic analysis.
Median age of diagnosis was 3 years (6 months - 19 years), in X-linked form the diagnosis was made earlier in general. Out of the 3 patients who underwent hematopoietic stem cell transplantation, 1 patient died due to complications of neurosurgical operation, the others are clinically well (17 and 19 months after transplantation).