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Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency scid)

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Abstract

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 [1]. We describe the radiologic changes in a neonate with ADA deficiency and their resolution with polyethylene glycol conjugated adenosine deaminase (PEGADA, ADAGEN; Enzon, Inc., South Plainfield, NJ) enzyme replacement therapy.

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Author notes

  1. S. D. Douglas

    Present address: Section of Immunology, Division of Infectious Diseases and Immunology, 34th and Civic Center Blvd., 19144, Philadelphia, PA, USA

Authors and Affiliations

  1. Section of Immunology, Division of Infectious Diseases and Immunology, 34th and Civic Center Blvd., 19144, Philadelphia, PA, USA

    V. S. Chakravarti

  2. Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia

    P. Borns

  3. Department of Hematology/Oncology, Geisinger Medical Center, Danville, PA, USA

    J. Lobell

Authors
  1. V. S. Chakravarti
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  2. P. Borns
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  3. J. Lobell
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  4. S. D. Douglas
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Chakravarti, V.S., Borns, P., Lobell, J. et al. Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency (chondroosseous dysplasia in ADA deficiency scid). Pediatr Radiol 21, 447–448 (1991). https://doi.org/10.1007/BF02026688

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  • DOI: https://doi.org/10.1007/BF02026688

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