David B. Lewis

Publication Details

  • Focus on FOCIS: The continuing diagnostic challenge of autosomal recessive chronic granulomatous disease CLINICAL IMMUNOLOGY Yu, G., Hong, D. K., Dionis, K. Y., Rae, J., Heyworth, P. G., Curnutte, J. T., Lewis, D. B. 2008; 128 (2): 117-126


    Chronic granulomatous disease (CGD) is a primary immunodeficiency of defective neutrophil oxidative burst activity due to mutations in the genes CYBA, NCF-1, NCF-2, and CYBB, which respectively encode the p22-phox, p47-phox, p67-phox, and gp91-phox subunits. CGD usually presents in early childhood with recurrent or severe infection with catalase-positive bacteria and fungi. We present an unusual case of CGD in which Burkholderia cepacia lymphadenitis developed in a previously healthy 10-year-old girl. Flow cytometric analysis of dihydrorhodamine (DHR)-labeled neutrophils performed by a CLIA-approved outside reference laboratory was reported as normal. However, we found that this patient's neutrophil oxidative burst activity in DHR assays was substantially reduced but not absent. A selective decrease in intracellular staining for p67-phox suggested the diagnosis of autosomal recessive CGD due to NCF-2 gene mutations, and a novel homozygous and hypomorphic NCF-2 gene mutation was found. The potential mechanisms for this delayed and mild presentation of CGD are discussed.

    View details for DOI 10.1016/j.clim.2008.05.008

    View details for Web of Science ID 000257941400001

    View details for PubMedID 18625437

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