Source:http://linkedlifedata.com/resource/pubmed/id/20529581
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
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pubmed:dateCreated |
2010-6-9
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pubmed:abstractText |
Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to migrate from the blood stream towards the site of inflammation. Correct and early diagnosis of LAD-1 is vital to the success of treatment and prevention of aggressive infections. The purpose of this study was to collect the clinical findings of the disease and to identify the genetic entity.
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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 |
May
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pubmed:issn |
0366-6999
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
20
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pubmed:volume |
123
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1278-82
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pubmed:dateRevised |
2010-11-15
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pubmed:meshHeading |
pubmed-meshheading:20529581-Antigens, CD18,
pubmed-meshheading:20529581-Asian Continental Ancestry Group,
pubmed-meshheading:20529581-Child, Preschool,
pubmed-meshheading:20529581-DNA Mutational Analysis,
pubmed-meshheading:20529581-Flow Cytometry,
pubmed-meshheading:20529581-Humans,
pubmed-meshheading:20529581-Leukocyte-Adhesion Deficiency Syndrome,
pubmed-meshheading:20529581-Male,
pubmed-meshheading:20529581-Point Mutation,
pubmed-meshheading:20529581-Polymerase Chain Reaction
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pubmed:year |
2010
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pubmed:articleTitle |
A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.
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pubmed:affiliation |
Department of Pediatrics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
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pubmed:publicationType |
Journal Article,
Case Reports
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