Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder.
Open Access
- 1 July 1981
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 56 (7) , 563-565
- https://doi.org/10.1136/adc.56.7.563
Abstract
A 2 1/2-year-old boy presented with an illness resembling glandular fever. He was found to have T-cell deficiency with lack of red and white cell purine nucleoside phosphorylase enzyme activity. A spastic tetraparesis was noted. The patient subsequently died of a malignant lymphoma of the B-immunoblastic type.This publication has 5 references indexed in Scilit:
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- EPSTEIN-BARR VIRUS INFECTIONS IN THE X-LINKED RECESSIVE LYMPHOPROLIFERATIVE SYNDROMEThe Lancet, 1978
- Purine Nucleoside Phosphorylase Deficiency Associated with Selective Cellular ImmunodeficiencyNew England Journal of Medicine, 1977
- Selective severe cellular immunodeficiencyClinical Immunology and Immunopathology, 1976
- Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotypeAnnals of Human Genetics, 1969