Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/99059
Title: Hematologically important mutations : leukocyte adhesion deficiency (first update)
Authors: Holland, Steven M.
Belohradsky, Bernd H.
Kuijpers, Taco W.
Van de Vijver, Edith
Maddalena, Anne
Sanal, Özden
Uzel, Gulbu
Madkaikar, Manisha
de Boer, Martin
Van Leeuwen, Karin
Köker, M. Yavuz
Parvaneh, Nima
Fischer, Alain
Law, S. K. Alex
Klein, Nigel
Tezcan, F. Ilhan
Unal, Ekrem
Patiroglu, Turkan
Schwartz, Klaus
Somech, Raz
Roos, Dirk
Issue Date: 2012
Source: van de Vijver, E., Maddalena, A., Sanal, Ö., Holland, S. M., Uzel, G., Madkaikar, M., de Boer, M., van Leeuwen, K., Köker, M. Y., Parvaneh, N., Fischer, A., Law, S. A., Klein, N., Tezcan, F. I., Unal, E., Patiroglu, T., Belohradsky, B. H., Schwartz, K., Somech, R., Kuijpers, T. W.,& Roos, D. (2012). Hematologically important mutations: Leukocyte adhesion deficiency (first update). Blood Cells, Molecules, and Diseases, 48(1), 53-61.
Series/Report no.: Blood cells, molecules, and diseases
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.
URI: https://hdl.handle.net/10356/99059
http://hdl.handle.net/10220/12687
ISSN: 1079-9796
DOI: http://dx.doi.org/10.1016/j.bcmd.2011.10.004
metadata.item.grantfulltext: none
metadata.item.fulltext: No Fulltext
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