title: Leukocyte adhesion deficiencies.
abstract: Leukocyte trafficking from the blood stream to tissues is essential for continuous surveillance of foreign antigens. This dynamic process, designated as the leukocyte adhesion cascade, involves distinct steps. In leukocyte adhesion deficiency (LAD) I the firm adhesion of leukocyte to the endothelium is defective, due to mutations in the beta 2 integrin gene. LAD II is caused by mutations in the fucose transporter specific to the Golgi apparatus, leading to the absence of Sialyl Lewis X-the fucosylated ligand for the selectins-thus affecting the rolling phase, the first phase of the cascade. In LAD III, a primary activation defect occurs in beta integrins 1, 2, and 3. Recently, the genetic basis for LAD III has been revealed to involve mutations in kindlin-3, a newly recognized essential component of integrin activation-the second phase of the adhesion cascade. Until now, no human or animal models of defect in transmigration-the fourth and last phase of the cascade-has been described.
authors.affiliation: Meyer Children's Hospital, Rambam Campus, Rappaport Faculty of Medicine, Technion, Haifa, Israel.
authors.forename: Suhair
authors.initials: S
authors.lastname: Hanna
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
mesh_terms: D000818:Animals; D002352:Carrier Proteins / Q000235:genetics / Q000276:immunology; D002448:Cell Adhesion / Q000235:genetics / Q000276:immunology; D004727:Endothelium / Q000276:immunology / Q000473:pathology; D006056:Golgi Apparatus / Q000235:genetics / Q000276:immunology; D006801:Humans; D039641:Integrin beta Chains / Q000235:genetics / Q000276:immunology; D036904:Leukocyte Rolling / Q000235:genetics* / Q000276:immunology*; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D007962:Leukocytes / Q000276:immunology* / Q000473:pathology; D016256:Lewis X Antigen / Q000235:genetics / Q000276:immunology; D008565:Membrane Proteins / Q000235:genetics / Q000276:immunology; D009363:Neoplasm Proteins / Q000235:genetics / Q000276:immunology; D000080506:Sialyl Lewis X Antigen
chemical_list: D002352:Carrier Proteins; C477322:FERMT3 protein, human; D039641:Integrin beta Chains; D016256:Lewis X Antigen; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D000080506:Sialyl Lewis X Antigen