A 5-week-old HIV-1-exposed girl with failure to thrive and diffuse nodular pulmonary infiltrates.
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.
Seeborg
Filiz O
FO
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.
Paul
Mary E
ME
Abramson
Stuart L
SL
Kearney
Debra L
DL
Dorfman
Scott R
SR
Holland
Steven M
SM
Shearer
William T
WT
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
D010750:Phosphoproteins; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1