In vitro platelet abnormality in adenosine deaminase deficiency and severe combined immunodeficiency.
The platelets of an infant with severe combined immune deficiency and adenosine deaminase deficiency showed markedly diminished responses to ADP-induced aggregation in vitro. This abnormality was corrected by the addition of purified adenosine deaminase in vitro. Exogenous adenosine added to platelet-rich plasma caused markedly prolonged inhibition of ADP-induced aggregation. This was shown by isotopic studies to be due to slow clearance of adenosine and hence persistence of this nucleoside. Direct assay for adenosine deaminiase in plasma and platelet lysates of the patient confirmed the very low activity of this enzyme. Raised cAMP levels were demonstrated in his platelets. The deranged adenosine metabolism and raised cAMP in the platelets of this child with severe combined immunodeficiency may explain the altered response to ADP. Despite the in vitro platelet aggregation abnormality, the patient had no clinical evidence of impaired hemostasis.
D000243:Adenosine Deaminase / Q000172:deficiency*; D001791:Blood Platelet Disorders / Q000150:complications*; D000242:Cyclic AMP / Q000097:blood; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007223:Infant; D008297:Male; D009700:Nucleoside Deaminases / Q000172:deficiency*; D010974:Platelet Aggregation
D000242:Cyclic AMP; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase