Glycoprotein-180 deficiency: genetics and abnormal neutrophil activation.
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.
Weisman
S J
SJ
Berkow
R L
RL
Plautz
G
G
Torres
M
M
McGuire
W A
WA
Coates
T D
TD
Haak
R A
RA
Floyd
A
A
Jersild
R
R
Baehner
R L
RL
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
D006023:Glycoproteins; D008562:Membrane Glycoproteins; D011951:Receptors, Complement; D011961:Receptors, Fc; C030340:elastin microfibril interface located protein; D013481:Superoxides