Linked Life Data

11213799

Source:http://linkedlifedata.com/resource/pubmed/id/11213799

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2001-2-13
pubmed:abstractText
Leukocyte adhesion deficiency (LAD) type II is the second human disorder identified which involves the adhesion cascade. While in LAD I the integrin family is defective, in LAD II the selectin system is involved. The syndrome has been described in only five patients and is transmitted as an autosomal recessive trait. The infectious episodes and the severity are much milder than those observed in LAD I, and the only persistent clinical symptom is chronic severe periodontitis. Delay separation of the umbilical cord, which is a hallmark for LAD I, was not observed in any of the LAD II patients. The exact defect in the system is absence of the SLeX, which is an important ligand for the selectin on the leukocyte lead ing to a profound defect in leukocyte rolling, the first step in the adhesion cascade. This causes a marked decrease in chemotaxis accompanied by pronounced neutrophilia. Apart from the leukocyte defect, these patients suffer from severe growth and mental retardation and exhibit the rare Bombay blood group type. The primary defect in the syndrome is in fucose metabolism, with the absence of all fucosylated glycans on cell surface membranes. Recently, it is was found that the defect is in a specific transporter of GDP fucose into the Golgi apparatus, and thus no fucosylation process takes place, and no surface expression can be detected. The exact genetic defect in the transporter is still unknown. Four of the patients were of Arabic origin while the fifth was of Turkish origin. It seems that the primary defect is somewhat different and, therefore, fucose administration was effective in the Turkish child, but did not show any beneficial results in the patients of Arabic origin.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0105-2896
pubmed:author
pubmed:issnType
Print
pubmed:volume
178
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
138-47
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Leukocyte adhesion deficiency II-from A to almost Z.
pubmed:affiliation
Department of Pediatrics, Rambam Medical Center, B. Rappaport School of Medicine, Technion, Haifa, Israel. etzioni@rambam.health.gov.il
pubmed:publicationType
Journal Article, Review