Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase.
Journal Article (Journal Article)
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.
Full Text
Duke Authors
Cited Authors
- Kaufman, DA; Hershfield, MS; Bocchini, JA; Moissidis, IJ; Jeroudi, M; Bahna, SL
Published Date
- December 2005
Published In
Volume / Issue
- 116 / 6
Start / End Page
- e876 - e879
PubMed ID
- 16263974
Electronic International Standard Serial Number (EISSN)
- 1098-4275
Digital Object Identifier (DOI)
- 10.1542/peds.2005-1068
Language
- eng
Conference Location
- United States