Affiliations: Department of Pediatrics, University of Maryland
School of Medicine, Baltimore, MD, USA | Department of Pediatrics, Allergy and Immunology, The
Johns Hopkins Medical Institutions, Baltimore, MD, USA
Note: [] Correspondence: Mark A. Travassos, Department of Pediatrics,
Center for Vaccine Development, University of Maryland School of Medicine, 685
West Baltimore St., HSFI 480 Baltimore, MD, USA. Tel.: +1 410 706 5328; Fax: +1
410 706 6205; E-mail: mtravass@medicine.umaryland.edu
Abstract: 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.
