A 5-week-old HIV-1-exposed girl with failure to thrive and diffuse nodular pulmonary infiltrates

J Allergy Clin Immunol. 2004 Apr;113(4):627-34. doi: 10.1016/j.jaci.2004.01.763.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Diagnosis, Differential
  • Environmental Exposure*
  • Failure to Thrive / diagnosis*
  • Female
  • Granulomatous Disease, Chronic / diagnosis*
  • HIV Infections / diagnosis*
  • HIV-1*
  • Humans
  • Infant, Newborn
  • NADPH Oxidases
  • Phosphoproteins / deficiency
  • Tomography, X-Ray Computed


  • Phosphoproteins
  • NADPH Oxidases
  • neutrophil cytosolic factor 1