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- W2106262022 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, accompanied by neutrophilia. In LAD-I, mutations are found in ITGB2, the gene that encodes the β subunit of the β2 integrins. This syndrome is characterized directly after birth by delayed separation of the umbilical cord. In the rare LAD-II disease, the fucosylation of selectin ligands is disturbed, caused by mutations in SLC35C1, the gene that encodes a GDP-fucose transporter of the Golgi system. LAD-II patients lack the H and Lewis Lea and Leb blood group antigens. Finally, in LAD-III (also called LAD-I/variant) the conformational activation of the hematopoietically expressed β integrins is disturbed, leading to leukocyte and platelet dysfunction. This last syndrome is caused by mutations in FERMT3, encoding the kindlin-3 protein in all blood cells that is involved in the regulation of β integrin conformation." @default.
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- W2106262022 date "2012-01-01" @default.
- W2106262022 modified "2023-10-16" @default.
- W2106262022 title "Hematologically important mutations: Leukocyte adhesion deficiency (first update)" @default.
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- W2106262022 doi "https://doi.org/10.1016/j.bcmd.2011.10.004" @default.
- W2106262022 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4539347" @default.
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- W2106262022 hasPublicationYear "2012" @default.
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