The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1.


Kilic S. Ş. , Etzioni A.

Journal of clinical immunology, vol.29, no.1, pp.117-22, 2009 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 1
  • Publication Date: 2009
  • Doi Number: 10.1007/s10875-008-9226-z
  • Journal Name: Journal of clinical immunology
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.117-22
  • Keywords: Leukocytes, platelets, integrins, adhesion, infections, bleeding, immunodeficiency, CONGENITAL DISORDERS, INTEGRIN ACTIVATION, GENE-MUTATIONS, GEFI, LYMPHOCYTES, PLATELETS, BETA-2

Abstract

Leukocyte adhesion deficiency (LAD) type III is a rare syndrome characterized by severe recurrent infections, leukocytosis, and increased bleeding tendency. All integrins are normally expressed yet a defect in their activation leads to the observed clinical manifestations.