Hematologically important mutations: Leukocyte adhesion deficiency (first update)

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van de Vijver E., Maddalena A., Sanal O., Holland S. M., Uzel G., Madkaikar M., ...Daha Fazla

BLOOD CELLS MOLECULES AND DISEASES, cilt.48, sa.1, ss.53-61, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 1
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.bcmd.2011.10.004
  • Dergi Adı: BLOOD CELLS MOLECULES AND DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.53-61
  • Anahtar Kelimeler: LAD-I, LAD-II, LAD-III, beta Integrins, GDP-fucose transporter, Kindlin-3, CELL-SURFACE EXPRESSION, POINT MUTATION, GENETIC-ANALYSIS, CD18, INTEGRIN, PATIENT, TYPE-1, KINDLIN-3, ASSOCIATION, DELETION
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.