Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67

Chronic granulomatous Disease (CGD) is a rare immunodeficiency caused by a defect in the leukocyte NADPH oxidase. This enzyme generates superoxide, which is needed for the killing of bacteria and fungi by phagocytic leukocytes. Most CGD patients have mutations inLeukocyte NADPH oxidase activity, expression of oxidase components and gene sequences were measured with standard methods. The mutation found in the patients'The exceptional feature of the A67 CGD patients reported here is that the p.Ala202Val mutation in the activation domain of p67The mutation found in