Adenosine deaminase deficiency in combined immunologic deficiency disease.
Deficiency of red cell and lymphocyte adenosine deaminase (ADA) was found in children suffering from congenital combined immunologic deficiency. The parents had ADA levels intermediate between patients and controls. Complete lack of ADA activity was not found in normal subjects or in patients with a variety of other immunologic deficiency diseases.
D000243:Adenosine Deaminase / Q000097:blood / Q000172:deficiency*; D002648:Child; D002902:Chromosomes, Human, 16-18; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005796:Genes; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology* / Q000235:genetics; D008214:Lymphocytes / Q000201:enzymology; D009700:Nucleoside Deaminases / Q000172:deficiency*; D011687:Purines / Q000378:metabolism; D013053:Spectrophotometry
D011687:Purines; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase