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.
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Authors | Grace Yu, David K Hong, Kira Y Dionis, Julie Rae, Paul G Heyworth, John T Curnutte, David B Lewis |
Journal | Clinical immunology (Orlando, Fla.)
(Clin Immunol)
Vol. 128
Issue 2
Pg. 117-26
(Aug 2008)
ISSN: 1521-7035 [Electronic] United States |
PMID | 18625437
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Phosphoproteins
- neutrophil cytosol factor 67K
- NADPH Oxidases
- NCF2 protein, human
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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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