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Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.

Abstract
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.
AuthorsGrace Yu, David K Hong, Kira Y Dionis, Julie Rae, Paul G Heyworth, John T Curnutte, David B Lewis
JournalClinical immunology (Orlando, Fla.) (Clin Immunol) Vol. 128 Issue 2 Pg. 117-26 (Aug 2008) ISSN: 1521-7035 [Electronic] United States
PMID18625437 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Phosphoproteins
  • neutrophil cytosol factor 67K
  • NADPH Oxidases
  • NCF2 protein, human
Topics
  • Burkholderia Infections (complications)
  • Burkholderia cepacia
  • Child
  • Chromosome Aberrations
  • Female
  • Genes, Recessive
  • Genotype
  • Granulomatous Disease, Chronic (complications, diagnosis, genetics)
  • Homozygote
  • Humans
  • Mutation
  • NADPH Oxidases (genetics)
  • Neutrophils (metabolism)
  • Phosphoproteins (genetics, metabolism)
  • Respiratory Burst
  • Staining and Labeling

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