Chronic Granulomatous Disease

Chronic granulomatous disease, also known as Bridges-Good syndrome or Quie syndrome, is a group of inherited disorders in which certain immune cells cannot properly form the reactive oxygen compounds needed to kill invading microbes, because the enzyme NADPH oxidase does not work correctly. Most cases are X-linked, affecting a protein called gp91, though other, autosomal recessive forms exist from mutations in related genes. Patients suffer recurrent infections such as pneumonia, skin abscesses, septic arthritis, and bone infection, and are especially vulnerable to certain bacteria and fungi including Aspergillus, with most cases diagnosed before age five. The disease affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year; historically children died young, but modern antibiotic prophylaxis and immune-modulating treatment now allow survival to around age 40, and gene therapy has shown early curative potential.