Send to:

Choose Destination
See comment in PubMed Commons below
Blood Cells Mol Dis. 2001 Nov-Dec;27(6):1000-4.

Hematologically important mutations: leukocyte adhesion deficiency.

Author information

  • 1Department of Experimental Immunohematology, CLB, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.


Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial infections and impaired wound healing. In LAD-I, mutations are found in INTG2, the gene that encodes the beta subunit of the beta(2) integrins. In the rare LAD-II disease, the fucosylation of selectin ligands is disturbed, caused by mutations in the gene for a GDP-fucose transporter of the Golgi. This article summarizes all known patient mutations and polymorphisms in these genes.

Copyright 2001 Elsevier Science.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk