[New findings in chronic granulomatous disease]

Chronic granulomatous disease is a rare hereditary disease characterized by repeated infections affecting in particular the skin, lymph nodes and internal organs. Histological examination in the affected tissues reveals a granulomatous inflammation. The aetiological agents of infection are most frequently staphylococci, G-bacteria, Candida and Aspergillus. From the immunological aspect it is an inborn immunodeficiency affecting professional phagocytes (monocytes and granulocytes) which are unable to kill some ingested microorganisms. The molecular basis of the defect is affection of the NADPH oxidase enzyme complex at various sites which explains the genetic heterogeneity of the disease. The condition is usually manifested in early childhood, it has a variable course; if untreated, the affected subjects frequently die in child age. By early diagnosis of the disease and suitable therapy the quality of life of the patients can be improved, serious complications can be prevented and the patients may reach adult age. The submitted paper is a review of contemporary knowledge of the disease, in particular its molecular basis and ensuing classification, as well as possible diagnosis and treatment of the disease. Several case-histories are presented.