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231223s2008 xx |||||o 00| ||eng c |
| 024 |
7 |
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|a 10.1016/j.clim.2008.05.008
|2 doi
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5 |
2 |
|a pubmed25n0603.xml
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|a (DE-627)NLM180888765
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|a (NLM)18625437
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Yu, Grace
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Focus on FOCIS
|b the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease
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| 264 |
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1 |
|c 2008
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ƒaComputermedien
|b c
|2 rdamedia
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| 338 |
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 03.09.2008
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| 500 |
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|a Date Revised 09.03.2022
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|a published: Print
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|a Citation Status MEDLINE
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| 520 |
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|a 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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| 650 |
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|a Case Reports
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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| 650 |
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|a Phosphoproteins
|2 NLM
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| 650 |
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|a neutrophil cytosol factor 67K
|2 NLM
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| 650 |
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|a NADPH Oxidases
|2 NLM
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| 650 |
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7 |
|a EC 1.6.3.-
|2 NLM
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| 650 |
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|a NCF2 protein, human
|2 NLM
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| 650 |
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|a EC 1.6.3.1
|2 NLM
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| 700 |
1 |
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|a Hong, David K
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Dionis, Kira Y
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Rae, Julie
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Heyworth, Paul G
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Curnutte, John T
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Lewis, David B
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 128(2008), 2 vom: 31. Aug., Seite 117-26
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnas
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| 773 |
1 |
8 |
|g volume:128
|g year:2008
|g number:2
|g day:31
|g month:08
|g pages:117-26
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|u http://dx.doi.org/10.1016/j.clim.2008.05.008
|3 Volltext
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