Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency SCID).
Adenosine deaminase (ADA) deficiency may manifest as severe combined immunodeficiency (SCID) in early infancy. Some of these children develop radiologic changes which may be in part related to effects of this enzyme deficiency on the bony epiphysis. We describe the radiologic changes in a neonate with ADA deficiency and their resolution with polyethylene glycol conjugated adenosine deaminase (PEG-ADA, ADAGEN: Enzon, Inc., South Plainfield, NJ) enzyme replacement therapy.
Chakravarti
V S
VS
Section of Immunology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine.
Borns
P
P
Lobell
J
J
Douglas
S D
SD
D000243:Adenosine Deaminase / Q000172:deficiency* / Q000627:therapeutic use; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012272:Ribs / Q000000981:diagnostic imaging; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000628:therapy
D000243:Adenosine Deaminase