An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein.
Neutrophils from a five-year-old boy with recurrent bacterial infections failed to spread on surfaces, leading to a severe defect in chemotaxis and a mild impairment in phagocytosis. Failure to spread was also seen in a fraction of the neutrophils from the patient's mother and sister, but cells from his father and brother were normal. Gel electrophoresis revealed that a protein with a molecular weight of 110,000 daltons (designated gp 110) present in the particulate fraction of normal neutrophils was absent from the patient's cells, and that its levels were below normal in cells from his mother and sister but normal in neutrophils from his father and brother. These findings suggest that gp 110 is necessary for the spreading of neutrophils onto surfaces, that the functional abnormality in the patient's cells is caused by its absence, and that deficiency of gp 110 is an X-linked congenital disease.
D001798:Blood Proteins / Q000172:deficiency*; D002448:Cell Adhesion; D002465:Cell Movement; D002634:Chemotaxis, Leukocyte; D002675:Child, Preschool; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009504:Neutrophils / Q000032:analysis / Q000502:physiology* / Q000648:ultrastructure; D010101:Oxygen Consumption; D010587:Phagocytosis; D012730:Sex Chromosomes
D001798:Blood Proteins