| http://purl.uniprot.org/citations/18625437 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18625437 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18625437 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.clim.2008.05.008"xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.clim.2008.05.008"xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Yu G."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Yu G."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Rae J."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Rae J."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Lewis D.B."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Lewis D.B."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Heyworth P.G."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Heyworth P.G."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Curnutte J.T."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Curnutte J.T."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Dionis K.Y."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Dionis K.Y."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Hong D.K."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/author | "Hong D.K."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/name | "Clin. Immunol."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/name | "Clin. Immunol."xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/pages | "117-126"xsd:string |
| http://purl.uniprot.org/citations/18625437 | http://purl.uniprot.org/core/pages | "117-126"xsd:string |