Source:http://linkedlifedata.com/resource/pubmed/id/11831866
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2002-2-8
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pubmed:databankReference | |
pubmed:abstractText |
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial infections and impaired wound healing. In LAD-I, mutations are found in INTG2, the gene that encodes the beta subunit of the beta(2) integrins. In the rare LAD-II disease, the fucosylation of selectin ligands is disturbed, caused by mutations in the gene for a GDP-fucose transporter of the Golgi. This article summarizes all known patient mutations and polymorphisms in these genes.
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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:issn |
1079-9796
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pubmed:author | |
pubmed:copyrightInfo |
Copyright 2001 Elsevier Science.
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pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1000-4
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pubmed:dateRevised |
2005-11-16
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pubmed:meshHeading | |
pubmed:articleTitle |
Hematologically important mutations: leukocyte adhesion deficiency.
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pubmed:affiliation |
Department of Experimental Immunohematology, CLB, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. d_roos@clb.nl
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pubmed:publicationType |
Journal Article,
Review
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