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.
Roos
D
D
Department of Experimental Immunohematology, CLB, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. d_roos@clb.nl
Law
S K
SK
D018821:CD18 Antigens / Q000235:genetics*; D006801:Humans; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000145:classification / Q000209:etiology / Q000235:genetics*; D007962:Leukocytes / Q000737:chemistry / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation
D018821:CD18 Antigens