作者
Edith Van De Vijver, Anne Maddalena, Özden Sanal, Steven M Holland, Gulbu Uzel, Manisha Madkaikar, Martin De Boer, Karin Van Leeuwen, M Yavuz Köker, Nima Parvaneh, Alain Fischer, SK Alex Law, Nigel Klein, F Ilhan Tezcan, Ekrem Unal, Turkan Patiroglu, Bernd H Belohradsky, Klaus Schwartz, Raz Somech, Taco W Kuijpers, Dirk Roos
发表日期
2012/1/15
来源
Blood Cells, Molecules, and Diseases
卷号
48
期号
1
页码范围
53-61
出版商
Academic Press
简介
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 …
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E Van De Vijver, A Maddalena, Ö Sanal, SM Holland… - Blood Cells, Molecules, and Diseases, 2012