Complete adenosine deaminase (ADA) deficiency without immunodeficiency, and primary hyperoxaluria, in a 12-year-old boy.
D000243:Adenosine Deaminase / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology; D001402:B-Lymphocytes / Q000276:immunology; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000378:metabolism; D007669:Kidney Calculi / Q000378:metabolism; D008214:Lymphocytes / Q000276:immunology*; D008297:Male; D009700:Nucleoside Deaminases / Q000172:deficiency*; D010070:Oxalates / Q000652:urine*; D010375:Pedigree; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000378:metabolism*; D012397:Rosette Formation; D013601:T-Lymphocytes / Q000276:immunology
D007136:Immunoglobulins; D010070:Oxalates; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase