Bone-marrow transplantation for inborn error of phagocytic cells associated with defective adherence, chemotaxis, and oxidative response during opsonised particle phagocytosis.
Two girls had delayed umbilical cord detachment, recurrent bacterial infection, inability to form pus, and marked leucocytosis. Their phagocytes were defective in tests of adherence, random migration, chemotaxis, and oxidative burst. NK activity was virtually absent. This rare disorder, due to an inherited absence of a 180 kilodalton membrane glycoprotein on polymorphonuclear cells, is usually lethal within 2 years. Allogeneic HLA-matched bone-marrow transplantation done at ages 4 months in one patient and 2 years in the other after intensive conditioning was successful and resulted in nearly complete correction of phagocytic cell function and NK activity within two months. One patient died 9 months after transplantation from severe chronic graft-versus-host disease with obstructive bronchopneumopathy. The other is doing well 1 year after transplantation and showing stable chimerism and normal phagocytic function.
D016026:Bone Marrow Transplantation; D002634:Chemotaxis, Leukocyte; D002675:Child, Preschool; D002678:Chimera; D005260:Female; D006087:Graft vs Host Reaction; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000151:congenital / Q000473:pathology / Q000628:therapy*; D007223:Infant; D007694:Killer Cells, Natural / Q000276:immunology; D007957:Leukocyte Adherence Inhibition Test; D007964:Leukocytosis / Q000175:diagnosis; D009000:Monocytes / Q000276:immunology; D009504:Neutrophils / Q000276:immunology; D009895:Opsonin Proteins / Q000276:immunology; D010084:Oxidation-Reduction; D010586:Phagocytes / Q000276:immunology*; D010587:Phagocytosis
D009895:Opsonin Proteins