Document Detail

Leukocyte adhesion deficiency II-from A to almost Z.
MedLine Citation:
PMID:  11213799     Owner:  NLM     Status:  MEDLINE    
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.
A Etzioni; M Tonetti
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Immunological reviews     Volume:  178     ISSN:  0105-2896     ISO Abbreviation:  Immunol. Rev.     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2001-02-13     Completed Date:  2001-04-19     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7702118     Medline TA:  Immunol Rev     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  138-47     Citation Subset:  IM    
Department of Pediatrics, Rambam Medical Center, B. Rappaport School of Medicine, Technion, Haifa, Israel.
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MeSH Terms
Cell Adhesion / genetics
Cell Movement / genetics
Child, Preschool
Fucose / metabolism,  therapeutic use
Infant, Newborn
Leukocyte-Adhesion Deficiency Syndrome / classification,  genetics,  immunology*
Lymphocytes / immunology
Neutrophils / immunology
Reg. No./Substance:

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