Update on Chronic Granulomatous Diseases of Childhood

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Abstract
SELECTED CASE A 19-YEAR-OLD black man presented with an autosomal recessive form of chronic granulomatous disease (CGD) of childhood (47-kd cytosol protein deficiency). At age 5 years, he was evaluated for a prolonged febrile illness and was found to have a positive tuberculin skin test. He responded to therapy with isoniazid and ethambutol for presumptive tuberculosis. He did well until age 8 years, when he presented with malaise, fever, and an infiltrate in the upper part of his right lung. Bronchoscopy did not yield a diagnosis. He was treated with broad-spectrum antibacterial therapy without altering his signs and symptoms. An immunologic workup that included a nitroblue tetrazolium dye reduction test indicated a failure of his blood neutrophils to produce superoxide. Subsequent studies confirmed the diagnosis of CGD, as indicated by a failure of his stimulated neutrophils to consume oxygen or produce hydrogen peroxide and by defective in vitro killing of