A child with chronic granulomatous disease

A four-year-old African-American female with a history of asthma, a Staphylococcus aureus skin abscess, and two prolonged pneumonia episodes presented with a one-week history of productive cough, fever, and night sweats. Chest computed tomography revealed right lung consolidation, cavitation within the right azygoesophageal recess, and an enlarged paratracheal lymph node, and biopsy of the lymph node showed granulomas. Lung tissue culture grew Burkholderia cepacia. A nitroblue tetrazolium test indicated a diagnosis of chronic granulomatous disease (CGD). CGD is a rare primary immunodeficiency in which there is a functional defect in one of the genes encoding nicotinamide adenine dinucleotide phosphate oxidase, which leads to impaired killing of catalase-producing bacteria and fungi within the phagolysosome. CGD presents most commonly as recurrent and prolonged pulmonary infections, but may also include repeated episodes of lymphadenitis, cutaneous infections, hepatic abscesses, and osteomyelitis. Staphylococcus aureus is the most commonly isolated organism, but infection with certain other bacteria such as Burkholderia cepacia is highly suggestive of CGD.