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January 1980

Partial Resolution of Bone Lesions: A Child With Severe Combined Immunodeficiency Disease and Adenosine Deaminase Deficiency After Enzyme-Replacement Therapy

Author Affiliations

From Case Western Reserve University School of Medicine, and the Departments of Radiology (Dr Yulish), Pediatrics (Drs Stern and Polmar), and Pathology (Dr Polmar), Rainbow Babies and Childrens Hospital, Cleveland.

Am J Dis Child. 1980;134(1):61-63. doi:10.1001/archpedi.1980.02130130043013

• 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.

(Am J Dis Child 134:61-63, 1980)

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