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Hematologically important mutations: leukocyte adhesion deficiency.

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.[1]

References

  1. Hematologically important mutations: leukocyte adhesion deficiency. Roos, D., Law, S.K. Blood Cells Mol. Dis. (2001) [Pubmed]
 
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