[Granulocyte dysfunction in transcobalamin II deficiency].
Granulocytes from a boy with congenital transcobalamin II (TC II) deficiency were found to have abnormally low antibacterial activity against Staphylococcus aureus. Transfusion of normal plasma supplemented with hydroxocobalamin temporarily restored granulocyte bactericidal activity to normal. Granulocyte function was also temporarily restored by oral leucovorin. The defect appears to be causally related to the patient's TC II deficiency and indirectly to an intracellular deficiency of cobalamin and folate coenzymes [1].
D001770:Blood Bactericidal Activity; D001798:Blood Proteins / Q000172:deficiency*; D001803:Blood Transfusion; D002648:Child; D005494:Folic Acid Deficiency / Q000628:therapy; D006098:Granulocytes / Q000502:physiology*; D006801:Humans; D002955:Leucovorin / Q000627:therapeutic use; D008297:Male; D013211:Staphylococcus aureus; D014155:Transcobalamins / Q000172:deficiency*
D001798:Blood Proteins; D014155:Transcobalamins; D002955:Leucovorin
Granulozytendysfunktion bei Transcobalamin-II-Mangel.