Hematologically important mutations : leukocyte adhesion deficiency (first update)
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, muta...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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| Other Authors: | |
| Format: | Journal Article |
| Language: | English |
| Published: |
2013
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| Online Access: | https://hdl.handle.net/10356/99059 http://hdl.handle.net/10220/12687 |
| _version_ | 1824455482731921408 |
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| author | 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 |
| author2 | School of Biological Sciences |
| author_facet | School of Biological Sciences 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 |
| author_sort | Holland, Steven M. |
| collection | NTU |
| description | 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. |
| first_indexed | 2025-02-19T03:38:55Z |
| format | Journal Article |
| id | ntu-10356/99059 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2025-02-19T03:38:55Z |
| publishDate | 2013 |
| record_format | dspace |
| spelling | ntu-10356/990592022-02-16T16:29:49Z Hematologically important mutations : leukocyte adhesion deficiency (first update) 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 School of Biological Sciences 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. 2013-08-01T01:36:37Z 2019-12-06T20:02:48Z 2013-08-01T01:36:37Z 2019-12-06T20:02:48Z 2012 2012 Journal Article 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. 1079-9796 https://hdl.handle.net/10356/99059 http://hdl.handle.net/10220/12687 10.1016/j.bcmd.2011.10.004 22134107 en Blood cells, molecules, and diseases |
| spellingShingle | 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 Hematologically important mutations : leukocyte adhesion deficiency (first update) |
| title | Hematologically important mutations : leukocyte adhesion deficiency (first update) |
| title_full | Hematologically important mutations : leukocyte adhesion deficiency (first update) |
| title_fullStr | Hematologically important mutations : leukocyte adhesion deficiency (first update) |
| title_full_unstemmed | Hematologically important mutations : leukocyte adhesion deficiency (first update) |
| title_short | Hematologically important mutations : leukocyte adhesion deficiency (first update) |
| title_sort | hematologically important mutations leukocyte adhesion deficiency first update |
| url | https://hdl.handle.net/10356/99059 http://hdl.handle.net/10220/12687 |
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