title: Glycoprotein-180 deficiency: genetics and abnormal neutrophil activation.
abstract: Neutrophil function was studied in a patient with polymorphonuclear leukocyte (PMN) glycoprotein-180 deficiency and in her parents. PMNs of the patient had abnormal chemotaxis, phagocytosis, adherence, surface charge, and membrane-associated events of activation. Selective defects to C3b, immunoglobulin G (IgG), phorbol myristate acetate (PMA) and N-formyl-methionyl-leucyl-phenylalanine (FMLP) are described, although C3b receptor density was normal. The parents were found to have abnormal adherence to nylon-wool fibers, abnormal transmembrane potential depolarization with PMA, and reduced amounts of glycoprotein-180 in their PMNs. These studies provide further evidence that the oxidative burst has several different pathways for activation. They demonstrate that the absence of a single PMN surface glycoprotein is associated with a broad spectrum of PMN functional abnormalities. Finally, the observations made in the parents support an autosomal recessive mode of inheritance.
authors.forename: S J
authors.initials: SJ
authors.lastname: Weisman
authors.forename: R L
authors.initials: RL
authors.lastname: Berkow
authors.forename: G
authors.initials: G
authors.lastname: Plautz
authors.forename: M
authors.initials: M
authors.lastname: Torres
authors.forename: W A
authors.initials: WA
authors.lastname: McGuire
authors.forename: T D
authors.initials: TD
authors.lastname: Coates
authors.forename: R A
authors.initials: RA
authors.lastname: Haak
authors.forename: A
authors.initials: A
authors.lastname: Floyd
authors.forename: R
authors.initials: R
authors.lastname: Jersild
authors.forename: R L
authors.initials: RL
authors.lastname: Baehner
mesh_terms: D001796:Blood Protein Disorders / Q000235:genetics*; D002448:Cell Adhesion; D002464:Cell Migration Inhibition; D002633:Chemotaxis; D002675:Child, Preschool; D005260:Female; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D007964:Leukocytosis / Q000209:etiology; D008560:Membrane Fluidity; D008562:Membrane Glycoproteins; D008564:Membrane Potentials; D009504:Neutrophils / Q000648:ultrastructure; D010587:Phagocytosis; D011951:Receptors, Complement; D011961:Receptors, Fc; D012397:Rosette Formation; D012884:Skin Window Technique; D013481:Superoxides / Q000032:analysis
chemical_list: D006023:Glycoproteins; D008562:Membrane Glycoproteins; D011951:Receptors, Complement; D011961:Receptors, Fc; C030340:elastin microfibril interface located protein; D013481:Superoxides