Linked Life Data

3296821

Source:http://linkedlifedata.com/resource/pubmed/id/3296821

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1987-6-26
pubmed:abstractText
The use of cytochemical, electron microscopic, immunofluorescent, and tissue culture techniques has led to important advances in our understanding of the mechanisms underlying the pathogenesis of the Chediak-Higashi syndrome (CHS). This rare and fatal autosomal recessive disorder is clinically characterized by partial albinism, frequent pyogenic infections, and an accelerated lymphohistiocytic phase. The pathological hallmark of CHS is the presence in all white blood cells of massive lysosomal inclusions, which are formed through a combined process of fusion, cytoplasmic injury, and phagocytosis. The abnormal inclusions exhibit both azurophilic and specific granular markers, and are probably responsible for most of the impaired leukocyte and other cell functions in CHS patients. In addition, a selective profound natural killer (NK) cell function and platelet storage pool deficiencies have been described in these patients. Impaired microtubule assembly and functions, mediated by abnormal intracellular cyclic nucleotide levels, which could be corrected by treatment with ascorbic acid, were suggested to be the pathophysiological basis for CHS abnormalities. However, some recent studies have questioned this cytoskeletal model, which is suggested to be rather a secondary manifestation of CHS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0192-8562
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
42-55
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Chediak-Higashi syndrome.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't