title: A 5-week-old HIV-1-exposed girl with failure to thrive and diffuse nodular pulmonary infiltrates.
abstract: A 5-week-old female infant with vertical HIV-1 exposure, progressive cough, and failure to thrive was given a diagnosis of bilateral diffuse nodular lung lesions. The child was without fever, leukocytosis, anemia, peripheral adenopathy, or hepatosplenomegaly, and the results of repeated blood tests for HIV-1 DNA were negative. A needle biopsy of the lungs revealed granulomatous inflammation and giant cells, with fungal organisms suggestive of Aspergillus species. A nitroblue tetrazolium dye test performed on the patient's blood specimen demonstrated absence of dye reduction, suggesting a diagnosis of chronic granulomatous disease. Further analysis revealed that the child had a deficiency of the p47(phox) component of the nicotinamide adenine dinucleotide phosphate oxidase system. Thus this child with vertical HIV-1 exposure and diffuse pulmonary nodules actually had an autosomal recessive form of chronic granulomatous disease. This case study clearly demonstrates that children with suspected HIV-1 infection might also need evaluation for primary immunodeficiency and that the clinical immunology laboratory is a powerful adjunct in coming to a correct diagnosis.
authors.affiliation: Department of Pediatrics, Section of Allergy and Immunology, Baylor College of Medicine and Texas Children's Hospital, 6621 Fannin Street (MC:FC330.01), Houston, TX 77030, USA.
authors.forename: Filiz O
authors.initials: FO
authors.lastname: Seeborg
authors.forename: Mary E
authors.initials: ME
authors.lastname: Paul
authors.forename: Stuart L
authors.initials: SL
authors.lastname: Abramson
authors.forename: Debra L
authors.initials: DL
authors.lastname: Kearney
authors.forename: Scott R
authors.initials: SR
authors.lastname: Dorfman
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: William T
authors.initials: WT
authors.lastname: Shearer
mesh_terms: D003937:Diagnosis, Differential; D004781:Environmental Exposure; D005183:Failure to Thrive / Q000175:diagnosis*; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis*; D015658:HIV Infections / Q000175:diagnosis*; D015497:HIV-1; D006801:Humans; D007231:Infant, Newborn; D019255:NADPH Oxidases; D010750:Phosphoproteins / Q000172:deficiency; D014057:Tomography, X-Ray Computed
chemical_list: D010750:Phosphoproteins; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1