Abstract
Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by severe recurrent bacterial and fungal infections and by a granuloma formation. Phagocyte NADPH oxidase (NOX) which is deficit in CGD, consists of gp91-, p22-, p47-, p67-, p40-phox (phagocyte oxidase), and Rac p21. Recently, based on homology of the gp91-phox oxidase domain structure, novel NOX proteins (NOX 1-5and Duox1/2) have been identified. Studies of these physiological functions and tissue localizations are in progress. Clinically the prognosis of CGD patients is expected to be ameliorated due to a development of novel anti-fungal drugs and prophylactic administration of inter-feron-gamma. Bone marrow transplantation (BMT) has been applied in 18 cases and also is expected to be done under non-myeloablative conditions. Although the medical treatment has progressed, standard precaution for the bacterial and fungal infections has not been proposed yet in Japan. We are going to prescribe a manual for patients' quality of lives to prevent life-threatening infections.
