Absence of lymphocyte ecto-5'-nucleotidase in infants with reticuloendotheliosis and eosinophilia (Omenn's syndrome).
Lymphocytes from three infants with reticuloendotheliosis and eosinophilia ( Omenn 's syndrome) and immunodeficiency were assayed for 5'-nucleotidase activity. B and T lymphocytes from all three patients were totally deficient in ecto-5'-nucleotidase activity, but had normal levels of cytoplasmic 5'-nucleotidase. In contrast, cultured lymphocytes expressed normal ectoplasmic and cytoplasmic activities, suggesting that the lymphocyte-restricted enzyme deficiency was not likely a primary genetic defect. The deficiency of lymphocyte ecto-5'-nucleotidase was not associated with any abnormality of deoxynucleoside metabolism. The absence of lymphocyte ecto-5'-nucleotidase may be a characteristic feature of this syndrome and may help to distinguish this disease from others with similar manifestations.
D015720:5'-Nucleotidase; D000249:Adenosine Monophosphate / Q000378:metabolism; D001402:B-Lymphocytes / Q000201:enzymology; D002462:Cell Membrane / Q000201:enzymology; D003593:Cytoplasm / Q000201:enzymology; D004802:Eosinophilia / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008206:Lymphatic Diseases / Q000150:complications / Q000201:enzymology*; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000201:enzymology*; D009708:Nucleotidases / Q000378:metabolism* / Q000502:physiology; D013163:Splenomegaly / Q000209:etiology; D013577:Syndrome; D013601:T-Lymphocytes / Q000201:enzymology
D000249:Adenosine Monophosphate; D009708:Nucleotidases; D015720:5'-Nucleotidase