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Arch Dis Child. 1981 July; 56(7): 563–565.
PMCID: PMC1627362

Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder.


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.

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Selected References

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  • Hopkinson DA, Cook PJ, Harris H. Further data on the adenosine deaminase (ADA) polymprphism and a report of a new phenotype. Ann Hum Genet. 1969 May;32(4):361–367. [PubMed]
  • Dallapiccola B, Magnani M, Dachà M, Giorgi PL. Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies. Hum Genet. 1979 Sep;50(3):341–343. [PubMed]
  • Stoop JW, Eijsvoogel VP, Zegers BJ, Blok-Schut B, van Bekkum DW, Ballieux RE. Selective severe cellular immunodeficiency. Effect of thymus transplantation and transfer factor administration. Clin Immunol Immunopathol. 1976 Nov;6(3):289–298. [PubMed]
  • Purtilo DT, Szymanski I, Bhawan J, Yang JP, Hutt LM, Boto W, DeNicola L, Maier R, Thorley-Lawson D. Epstein-Barr virus infections in the X-linked recessive lymphoproliferative syndrome. Lancet. 1978 Apr 15;1(8068):798–801. [PubMed]
  • Stoop JW, Zegers BJ, Hendrickx GF, van Heukelom LH, Staal GE, de Bree PK, Wadman SK, Ballieux RE. Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. N Engl J Med. 1977 Mar 24;296(12):651–655. [PubMed]

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