Review Article Children with Chronic Granulomatous Disease

概要

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Patients with CGD are "experiments of nature." An abnormality of genetic coding of small part of a protein (cytochrome b) in the membrane of phagocytic cells results in abnormal oxidative metabolism of these cells. The metabolic defect is critical for production of reactive oxygen radicals, which are necessary for efficient intracellular killing of catalase-positive bacterial and fungal species within phagocytic vacuoles. Patients with CGD suffer recurrent severe and often lifethreatening infections with these same species of bacteria and fungi. Thus clinical evidence is provided for the importance of a normal oxidative response of phagocytic cells during the engulfment process for normal host defense against bacteria. Investigators, intrigued by this remarkable biochemical clinical correlation, have studied human granulocytes with the tools of modern molecular genetics. The abnormal gene has been located and defective-gene products have been identified in CGD patients. This knowledge has provided a basis for therapy of CGD patients with human recombinant interferon gamma, an immunomodulator which stimulates NADPH-oxidase activity in the abnormal granulocytes. Other treatment and replacement modalities are anticipated but most importantly these CGD patients have provided insights into the usually hidden mysteries of nature. We are very grateful to these patients as our teachers.
長崎大学の論文