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 CZ and SK Republic between years 1957 and 2008.
The cohort consists of 34 patients (31 males, 3 females) from 23 families; 26 patients were treated in the Czech Republic, 8 patients in Slovakia. In 22 patients the data were acquired through questionnaire survey, data on the other patients were extracted from published studies.
Estimated average live birth incidence of CGD in the CZ is 1:280.000. 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 (15 patients had mutations in CYBB gene, 1 patient in NCF1 gene). There were 14 female carriers of Xlinked form detected; three of them suffered from clinical symptoms consistent with haploinsufficiency of CYBB gene (colitis, systemic lupus erythematodus, dermatitis).
The clinical symptoms occured in infancy in most of the patients with X-linked form; in autosomal recessive form the disease manifested later (in pre-school or in school age). The most common symptoms leading to diagnosis were lymphadenopathy (56 %), pneumonia (44 %) and hepatic abscesses (35 %).
Median age of diagnosis was 3 years (6 months - 19 years), in X-linked form the diagnosis was made earlier in general. The most common infectious pathogens detected were Staphylococcus aureus, Salmonella spp. and Aspergillus spp.
Median survival in the whole cohort was 7 years (2 months - 37 years), 13 patients deceased. Median age of the living patients is 15 years (3 - 37 years).
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).