Document Detail


Lessons from rare maladies: leukocyte adhesion deficiency syndromes.
MedLine Citation:
PMID:  23207660     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE OF REVIEW: The leukocyte adhesion deficiency (LAD) syndromes are rare genetically determined conditions with challenging clinical features. These immunodeficiencies also provide insights that are broadly relevant to the biology of leukocytes, platelets, intercellular interactions, and intracellular signaling. Recent discoveries merit their review in the context of existing knowledge.
RECENT FINDINGS: New activities of β(2) integrins, which are deficient or absent in LAD-I, and new β(2) integrin-dependent functions of neutrophils and other leukocytes have recently been identified. Genetic defects and mechanisms accounting for impaired fucosylation of selectin ligands and defective selectin binding and signaling in LAD-II are now apparent. LAD-III, which presents with bleeding similar to that in Glanzmann thrombasthenia and platelet dysfunction in addition to impaired leukocyte adhesion, is now known to be due to absence of KINDLIN-3, a cytoplasmic protein that acts cooperatively with TALIN-1 in activating β(1), β(2), and β(3) integrins. Understanding of the leukocyte adhesion cascade and interactions of leukocytes with inflamed endothelium, which are impaired in each of the LAD syndromes, continues to be refined.
SUMMARY: Although LAD syndromes are rare maladies, their investigation is generating new knowledge directly applicable to the diagnosis and care of patients and to fundamental paradigms in immunobiology and hemostasis.
Authors:
Estelle S Harris; Andrew S Weyrich; Guy A Zimmerman
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Current opinion in hematology     Volume:  20     ISSN:  1531-7048     ISO Abbreviation:  Curr. Opin. Hematol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2012-12-04     Completed Date:  2013-04-25     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  9430802     Medline TA:  Curr Opin Hematol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  16-25     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Animals
Antigens, CD18 / immunology
Cell Adhesion / immunology
Humans
Leukocyte-Adhesion Deficiency Syndrome / genetics,  immunology*
Leukocytes / immunology,  metabolism
Grant Support
ID/Acronym/Agency:
R01 HL066277/HL/NHLBI NIH HHS; R01HL066277/HL/NHLBI NIH HHS; R01HL092746/HL/NHLBI NIH HHS; R37 HL044525/HL/NHLBI NIH HHS; R37HL44525/HL/NHLBI NIH HHS; RC1HL100121/HL/NHLBI NIH HHS; U54 HL112311/HL/NHLBI NIH HHS; U54HLH2311//PHS HHS
Chemical
Reg. No./Substance:
0/Antigens, CD18
Comments/Corrections

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