An abnormality of neutrophil adhesion: autosomal recessive inheritance associated with missing neutrophil glycoproteins.
A 3-month-old Japanese female infant, with persistent navel infection due to Pseudomonas aeruginosa since birth and recurrent bacterial skin infections, was found to have a severe abnormality of neutrophil adhesion on a surface, leading to a lack of chemotaxis and a mild impairment of phagocytosis. Neither neutrophil bactericidal activity nor nitroblue tetrazorium reduction was impaired. Sodium dodecyl sulfate polyacrylamide-gel electrophoresis of neutrophil membrane proteins from the patient disclosed the lack of two glycoproteins, one with a molecular weight (mol wt) of 110 K on the cell surface, and the other with mol wt of 115 K, possibly in intracellular membranes. The levels of the two glycoproteins were below normal in neutrophils from both parents, with the 110 K glycoprotein reduced to half the normal level. These findings indicate that the disease was inherited in an autosomal recessive fashion.
D001770:Blood Bactericidal Activity; D001798:Blood Proteins / Q000172:deficiency*; D002448:Cell Adhesion; D002634:Chemotaxis, Leukocyte; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006023:Glycoproteins / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000172:deficiency*; D009504:Neutrophils / Q000502:physiology*; D010587:Phagocytosis; D011552:Pseudomonas Infections / Q000235:genetics; D012874:Skin Diseases, Infectious / Q000235:genetics; D014472:Umbilicus / Q000473:pathology
D001798:Blood Proteins; D006023:Glycoproteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; C030340:elastin microfibril interface located protein