Partial resolution of bone lesions. A child with severe combined immunodeficiency disease and adenosine deaminase deficiency after enzyme-replacement therapy.
A child with severe combined immunodeficiency disease and adenosine deaminase deficiency, with characteristic bone dysplasia, was treated with transfusions of frozen irradiated RBCs as a means of enzyme replacement. This therapy resulted in restoration of immunologic competence and partial resolution of the bone lesions. Although the natural history of these lesions without therapy is not known, enzyme-replacement therapy may have played a role in the resolution of this patient's bone lesions.
D000243:Adenosine Deaminase / Q000172:deficiency* / Q000627:therapeutic use; D001803:Blood Transfusion / Q000379:methods*; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000532:radiotherapy / Q000628:therapy; D002675:Child, Preschool; D004912:Erythrocytes / Q000528:radiation effects; D005615:Freezing; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009700:Nucleoside Deaminases / Q000172:deficiency*; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D014953:Wrist / Q000000981:diagnostic imaging
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase