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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
544
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pubmed:dateCreated |
1975-12-12
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pubmed:abstractText |
Chronic granulomatous disease, in which abnormal susceptibility to infection is caused by an inherited defect in phagocytic cells, has been diagnosed in three brothers. Two brothers had repeated bacterial infections of the skin, superficial lymph nodes and lungs from infancy and died aged 27 months and 13 months. Characteristic suppurating granulomata were found in many organs. The diagnosis was established in both during life, and in the third asymptomatic brother shortly after birth, by studies of phagocytic function which included tests for nitroblue-tetrazolium reduction, hexose monophosphate shunt activity and bactericidal capacity. Their mother and a maternal aunt, both Maoris with no known Caucasian ancestry, were identified as carriers of the presumed sex-linked recessive gene. The clinical features of the disease and the laboratory methods for diagnosis are described.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0028-8446
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
23
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pubmed:volume |
82
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
37-42
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1058339-Child, Preschool,
pubmed-meshheading:1058339-European Continental Ancestry Group,
pubmed-meshheading:1058339-Female,
pubmed-meshheading:1058339-Genes, Recessive,
pubmed-meshheading:1058339-Granulomatous Disease, Chronic,
pubmed-meshheading:1058339-Humans,
pubmed-meshheading:1058339-Infant,
pubmed-meshheading:1058339-Lung,
pubmed-meshheading:1058339-Lymph Nodes,
pubmed-meshheading:1058339-Male,
pubmed-meshheading:1058339-New Zealand,
pubmed-meshheading:1058339-Pedigree,
pubmed-meshheading:1058339-Phagocyte Bactericidal Dysfunction,
pubmed-meshheading:1058339-Phagocytosis,
pubmed-meshheading:1058339-Polynesia,
pubmed-meshheading:1058339-Sex Chromosomes
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pubmed:year |
1975
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pubmed:articleTitle |
Chronic granulomatous disease: an inherited disorder of phagocytosis in a Maori ancestry.
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pubmed:publicationType |
Journal Article,
Case Reports
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