Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2002-2-8
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1079-9796
pubmed:author
pubmed:copyrightInfo
Copyright 2001 Elsevier Science.
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1000-4
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:articleTitle
Hematologically important mutations: leukocyte adhesion deficiency.
pubmed:affiliation
Department of Experimental Immunohematology, CLB, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. d_roos@clb.nl
pubmed:publicationType
Journal Article, Review