Linked Life Data

1352501

Source:http://linkedlifedata.com/resource/pubmed/id/1352501

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1992-8-11
pubmed:abstractText
The leukocyte integrins LFA-1, Mac-1 and p150,95 (CD11a/CD18, CD11b/CD18, CD11c/CD18) mediate crucial leukocyte adhesive functions in immune and inflammatory reactions. Leukocyte adhesion deficiency (LAD) disease is caused by the defective expression of these adhesion molecules on leukocytes, and is characterized by recurrent infections and impaired pus formation due to the blockade of leukocyte migration into inflamed tissues. LAD is originated by heterogeneous mutations affecting the CD18 gene and, based on the severity of the deficiency, two phenotypes (severe and moderate) have been defined. Biochemical and genetic studies have allowed the classification of five different types of LAD. We have identified a type V LAD patient (severe phenotype, and normal size and levels of both CD18 precursor and CD18 mRNA), and determined its molecular basis. Reverse transcription-polymerase chain reaction and cloning and sequencing of CD18 cDNA derived from this patient revealed three silent mutations and a missense mutation that leads to the substitution of glycine at position 169 for an arginine. Analysis of patient-derived cDNA clones revealed the concomitant presence of aberrant splicing within the 5' region of the CD18 gene. The description of an identical mutation at residue 169 in an unrelated severe LAD patient raises the possibility that severe LAD type V is caused by a unique genetic defect.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0014-2980
pubmed:author
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1877-81
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Molecular basis for a severe case of leukocyte adhesion deficiency.
pubmed:affiliation
Unidad de Biología Molecular, Hospital de La Princesa, Madrid, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't