Literature DB >> 6791594

Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder.

A R Watson, D I Evans, H B Marsden, V Miller, P A Rogers.   

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.

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Year:  1981        PMID： 6791594      PMCID： PMC1627362          DOI： 10.1136/adc.56.7.563

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

1.  Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies.

Authors:  B Dallapiccola; M Magnani; M Dachà; P L Giorgi
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

2.  Selective severe cellular immunodeficiency. Effect of thymus transplantation and transfer factor administration.

Authors:  J W Stoop; V P Eijsvoogel; B J Zegers; B Blok-Schut; D W van Bekkum; R E Ballieux
Journal:  Clin Immunol Immunopathol       Date:  1976-11

3.  Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.

Authors:  J W Stoop; B J Zegers; G F Hendrickx; L H van Heukelom; G E Staal; P K de Bree; S K Wadman; R E Ballieux
Journal:  N Engl J Med       Date:  1977-03-24       Impact factor: 91.245

4.  Further data on the adenosine deaminase (ADA) polymprphism and a report of a new phenotype.

Authors:  D A Hopkinson; P J Cook; H Harris
Journal:  Ann Hum Genet       Date:  1969-05       Impact factor: 1.670

5.  Epstein-Barr virus infections in the X-linked recessive lymphoproliferative syndrome.

Authors:  D T Purtilo; I Szymanski; J Bhawan; J P Yang; L M Hutt; W Boto; L DeNicola; R Maier; D Thorley-Lawson
Journal:  Lancet       Date:  1978-04-15       Impact factor: 79.321
  5 in total
  6 in total

1.  Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse.

Authors:  F F Snyder; J P Jenuth; E R Mably; R K Mangat
Journal:  Proc Natl Acad Sci U S A       Date:  1997-03-18       Impact factor: 11.205

Review 2.  Metabolic defects in immunodeficiency diseases.

Authors:  A D Webster
Journal:  Clin Exp Immunol       Date:  1982-07       Impact factor: 4.330

3.  Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.

Authors:  M R Aust; L G Andrews; M J Barrett; C J Norby-Slycord; M L Markert
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

4.  Dysequilibrium/ataxic diplegia with immunodeficiency.

Authors:  R L Soutar; R E Day
Journal:  Arch Dis Child       Date:  1991-08       Impact factor: 3.791

5.  Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.

Authors:  H A Simmonds; L D Fairbanks; G S Morris; G Morgan; A R Watson; P Timms; B Singh
Journal:  Arch Dis Child       Date:  1987-04       Impact factor: 3.791

6.  Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.

Authors:  Eyal Grunebaum; Nicholas Campbell; Matilde Leon-Ponte; Xiaobai Xu; Hugo Chapdelaine
Journal:  Front Immunol       Date:  2020-06-30       Impact factor: 7.561
  6 in total

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