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Hematologically Important Mutations: Leukocyte Adhesion Deficiency

2001; Elsevier BV; Volume: 27; Issue: 6 Linguagem: Inglês

10.1006/bcmd.2001.0473

1096-0961

Dirk Roos, S.K. Alex Law,

Blood disorders and treatments

ABSTRACT 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 β subunit of the β2 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.