Hematologically important mutations: Leukocyte adhesion deficiency (first update)

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; S. K. Alex Law; Nigel Klein; F. Ilhan Tezcan; Ekrem Unal; Turkan Patiroglu; Bernd H. Belohradsky; Klaus Schwartz; Raz Somech; Taco W. Kuijpers; Dirk Roos

doi:https://doi.org/10.1016/j.bcmd.2011.10.004

Hematologically important mutations: Leukocyte adhesion deficiency (first update)

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, S. K. Alex Law, Nigel Klein, F. Ilhan Tezcan, Ekrem Unal, Turkan Patiroglu, Bernd H. Belohradsky, Klaus Schwartz, Raz Somech, Taco W. KuijpersDirk Roos

Research output: Contribution to journal › Article › Academic › peer-review

140 Citations (Scopus)

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 beta subunit of the beta(2) 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 Le(a) and Le(b) blood group antigens. Finally, in LAD-III (also called LAD-I/variant) the conformational activation of the hematopoietically expressed beta 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 beta integrin conformation. (C) 2011 Elsevier Inc. All rights reserved

Original language	English
Pages (from-to)	53-61
Journal	Blood cells, molecules & diseases
Volume	48
Issue number	1
DOIs	https://doi.org/10.1016/j.bcmd.2011.10.004
Publication status	Published - 2012

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https://doi.org/10.1016/j.bcmd.2011.10.004

Cite this

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. K. A., Klein, N., Tezcan, F. I., Unal, E., Patiroglu, T., Belohradsky, B. H., Schwartz, K., Somech, R., ... Roos, D. (2012). Hematologically important mutations: Leukocyte adhesion deficiency (first update). Blood cells, molecules & diseases, 48(1), 53-61. https://doi.org/10.1016/j.bcmd.2011.10.004

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title = "Hematologically important mutations: Leukocyte adhesion deficiency (first update)",

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 beta subunit of the beta(2) 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 Le(a) and Le(b) blood group antigens. Finally, in LAD-III (also called LAD-I/variant) the conformational activation of the hematopoietically expressed beta 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 beta integrin conformation. (C) 2011 Elsevier Inc. All rights reserved",

author = "{van de Vijver}, Edith and Anne Maddalena and {\"O}zden Sanal and Holland, {Steven M.} and Gulbu Uzel and Manisha Madkaikar and {de Boer}, Martin and {van Leeuwen}, Karin and K{\"o}ker, {M. Yavuz} and Nima Parvaneh and Alain Fischer and Law, {S. K. Alex} and Nigel Klein and Tezcan, {F. Ilhan} and Ekrem Unal and Turkan Patiroglu and Belohradsky, {Bernd H.} and Klaus Schwartz and Raz Somech and Kuijpers, {Taco W.} and Dirk Roos",

year = "2012",

doi = "https://doi.org/10.1016/j.bcmd.2011.10.004",

language = "English",

volume = "48",

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van de Vijver, E, Maddalena, A, Sanal, Ö, Holland, SM, Uzel, G, Madkaikar, M, de Boer, M, van Leeuwen, K, Köker, MY, Parvaneh, N, Fischer, A, Law, SKA, Klein, N, Tezcan, FI, Unal, E, Patiroglu, T, Belohradsky, BH, Schwartz, K, Somech, R, Kuijpers, TW & Roos, D 2012, 'Hematologically important mutations: Leukocyte adhesion deficiency (first update)', Blood cells, molecules & diseases, vol. 48, no. 1, pp. 53-61. https://doi.org/10.1016/j.bcmd.2011.10.004

TY - JOUR

T1 - Hematologically important mutations: Leukocyte adhesion deficiency (first update)

AU - van de Vijver, Edith

AU - Maddalena, Anne

AU - Sanal, Özden

AU - Holland, Steven M.

AU - Uzel, Gulbu

AU - Madkaikar, Manisha

AU - de Boer, Martin

AU - van Leeuwen, Karin

AU - Köker, M. Yavuz

AU - Parvaneh, Nima

AU - Fischer, Alain

AU - Law, S. K. Alex

AU - Klein, Nigel

AU - Tezcan, F. Ilhan

AU - Unal, Ekrem

AU - Patiroglu, Turkan

AU - Belohradsky, Bernd H.

AU - Schwartz, Klaus

AU - Somech, Raz

AU - Kuijpers, Taco W.

AU - Roos, Dirk

PY - 2012

Y1 - 2012

N2 - 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 beta subunit of the beta(2) 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 Le(a) and Le(b) blood group antigens. Finally, in LAD-III (also called LAD-I/variant) the conformational activation of the hematopoietically expressed beta 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 beta integrin conformation. (C) 2011 Elsevier Inc. All rights reserved

AB - 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 beta subunit of the beta(2) 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 Le(a) and Le(b) blood group antigens. Finally, in LAD-III (also called LAD-I/variant) the conformational activation of the hematopoietically expressed beta 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 beta integrin conformation. (C) 2011 Elsevier Inc. All rights reserved

U2 - https://doi.org/10.1016/j.bcmd.2011.10.004

DO - https://doi.org/10.1016/j.bcmd.2011.10.004

M3 - Article

C2 - 22134107

SN - 1079-9796

VL - 48

SP - 53

EP - 61

JO - Blood cells, molecules & diseases

JF - Blood cells, molecules & diseases

IS - 1

ER -