Hematologically important mutations: Leukocyte adhesion deficiency (second update)

Autor: Roos, Dirk, van Leeuwen, Karin, Madkaikar, Manisha, Kambli, Priyanka M., Gupta, Maya, Mathews, Vikram, Rawat, Amit, Kuhns, Douglas B., Holland, Steven M., de Boer, Martin, Kanegane, Hirokazu, Parvaneh, Nima, Lorenz, Myriam, Schwarz, Klaus, Klein, Christoph, Sherkat, Roya, Jafari, Mahbube, Wolach, Baruch, den Dunnen, Johan T., Kuijpers, Taco W., K?ker, M. Yavuz
Přispěvatelé: Pediatrics, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Infectious diseases, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Blood Cells Molecules and Diseases, 99:102726. Academic Press Inc.
Roos, D, van Leeuwen, K, Madkaikar, M, Kambli, P M, Gupta, M, Mathews, V, Rawat, A, Kuhns, D B, Holland, S M, de Boer, M, Kanegane, H, Parvaneh, N, Lorenz, M, Schwarz, K, Klein, C, Sherkat, R, Jafari, M, Wolach, B, den Dunnen, J T, Kuijpers, T W & K?ker, M Y 2023, ' Hematologically important mutations : Leukocyte adhesion deficiency (second update) ', Blood Cells Molecules and Diseases, vol. 99, 102726 . https://doi.org/10.1016/j.bcmd.2023.102726
Blood cells, molecules & diseases, 99:102726. Academic Press Inc.
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2023.102726
Popis: 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, characterized directly after birth by delayed separation of the umbilical cord, mutations are found in ITGB2, the gene that encodes the β subunit (CD18) of the β 2 integrins. 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, 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, involved in the regulation of β integrin conformation. This article contains an update of the mutations that we consider to be relevant for the various forms of LAD.
Databáze: OpenAIRE
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