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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1992-4-1
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pubmed:abstractText |
A 13-year-old female presented with photosensitivity, recurrent aphthous ulcers and discoid lupus erythematosus (DLE)-like skin lesions. These symptoms have been linked to the carrier status of chronic granulomatous disease (CGD). Neutrophil (PMN) function was investigated by nitroblue tetrazolium reduction test and chemiluminescence. A severe impairment of PMN oxidative burst activity was revealed in spite of supranormal levels of cytochrome b245. Glucose-6-phosphate dehydrogenase activity was deficient. Her mother and two sisters also showed reduced PMN function. These findings are consistent with a cytochrome positive X-linked form of CGD with variable lyonization. DLE in association with the carrier status of this CGD variant has not been reported previously.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0007-0963
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
126
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
60-5
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1536763-Adolescent,
pubmed-meshheading:1536763-Cytochrome b Group,
pubmed-meshheading:1536763-Female,
pubmed-meshheading:1536763-Glucosephosphate Dehydrogenase Deficiency,
pubmed-meshheading:1536763-Granulomatous Disease, Chronic,
pubmed-meshheading:1536763-Heterozygote,
pubmed-meshheading:1536763-Heterozygote Detection,
pubmed-meshheading:1536763-Humans,
pubmed-meshheading:1536763-Luminescent Measurements,
pubmed-meshheading:1536763-Lupus Erythematosus, Discoid,
pubmed-meshheading:1536763-Neutrophils,
pubmed-meshheading:1536763-Nitroblue Tetrazolium
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pubmed:year |
1992
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pubmed:articleTitle |
Discoid lupus erythematosus in an X-linked cytochrome-positive carrier of chronic granulomatous disease.
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pubmed:affiliation |
Aberdeen and N.E. Scotland Blood Transfusion Service, Aberdeen Royal Infirmary, Foresterhill, U.K.
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pubmed:publicationType |
Journal Article,
Case Reports
|