Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase

Pediatrics. 2005 Dec;116(6):e876-9. doi: 10.1542/peds.2005-1068. Epub 2005 Nov 1.

Abstract

Polyethylene glycol-conjugated adenosine deaminase (PEG-ADA) provides an alternate therapy to mismatched stem cell transplantation for patients with ADA-deficient severe combined immunodeficiency. Although replacement therapy with PEG-ADA is effective in preventing infections, immune function does not return to normal, and most patients remain lymphopenic. Information is limited regarding the prognosis of patients on long-term ADA-replacement therapy. Here we present a case of a 10-year-old child who was diagnosed with ADA-severe combined immunodeficiency at 4 weeks of age after contracting pneumonia. Treatment with PEG-ADA was begun, the biochemical markers of ADA deficiency normalized, and his clinical progress was very good without significant infections. At 10 years of age, after presenting with headaches and cranial nerve deficits, he was diagnosed with Epstein-Barr virus-positive malignant brain lymphoma. It did not respond to various regimens of aggressive chemotherapy, and the patient expired 5 months later. We speculate that in this patient the immunologic surveillance by T cells may have been defective with respect to elimination of Epstein-Barr virus-infected cells, hence the formation of neoplasm. The possible mechanisms underlying such pathology are reviewed.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / therapeutic use*
  • Brain Neoplasms / complications*
  • Child
  • Drug Carriers / therapeutic use
  • Epstein-Barr Virus Infections / complications*
  • Fatal Outcome
  • Humans
  • Lymphoma / complications*
  • Male
  • Severe Combined Immunodeficiency / complications*
  • Severe Combined Immunodeficiency / drug therapy*

Substances

  • Drug Carriers
  • Adenosine Deaminase
  • pegademase bovine