Skip to main content
SpringerLink
Log in

Purine Nucleoside Phosphorylase Deficiency

  • Living reference work entry
  • First Online:
Genetic Syndromes

  • 7 Accesses

Abstract

Name of system: Immunology

This work was supported in part by The Audrey and Donald Campbell Chair in Immunology

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Arpaia E, Benveniste P, Di Cristofano A et al (2000) Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice. J Exp Med 191(12):2197–2208

    Article  CAS  Google Scholar 

  • Bousfiha A, Jeddane L, Al-Herz W et al (2015) The 2015 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol 35(8):727–738

    Article  Google Scholar 

  • Brodszki N, Svensson M, van Kuilenburg AB et al (2015) Novel genetic mutations in the first Swedish patient with purine nucleoside phosphorylase deficiency and clinical outcome after hematopoietic stem cell transplantation with HLA-matched unrelated donor. JIMD Rep 24:83–89

    Article  Google Scholar 

  • Dehkordy SF, Aghamohammadi A, Ochs HD et al (2012) Primary immunodeficiency diseases associated with neurologic manifestations. J Clin Immunol 32(1):1–24

    Article  Google Scholar 

  • Giblett ER, Ammann AJ, Wara DW et al (1975) Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet 3 1(7914):1010–1013

    Article  CAS  Google Scholar 

  • Grunebaum E, Cohen A, Roifman CM (2013) Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies. Curr Opin Allergy Clin Immunol 13(6):630–638

    Article  CAS  Google Scholar 

  • Liao P, Toro A, Min W et al (2008) Lentivirus gene therapy for purine nucleoside phosphorylase deficiency. J Gene Med 10(12):1282–1293

    Article  CAS  Google Scholar 

  • Mansouri A, Min W, Cole CJ et al (2012) Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice. Neurobiol Dis 47(2):201–209

    Article  CAS  Google Scholar 

  • Toro A, Grunebaum E (2006) TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice. J Clin Invest 116(10):2717–2726

    Article  CAS  Google Scholar 

  • Yeates L, Slatter MA, Gennery AR (2017) Infusion of sibling marrow in a patient with purine nucleoside phosphorylase deficiency leads to split mixed donor chimerism and normal immunity. Front Pediatr 5:143. https://doi.org/10.3389/fped.2017.00143

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Developmental and Stem Cell Biology Program, Hospital for Sick Children, Toronto, ON, Canada

    Michael Tsui & Eyal Grunebaum

  2. Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada

    Michael Tsui & Eyal Grunebaum

  3. Division of Immunology and Allergy, Hospital for Sick Children, Toronto, ON, Canada

    Eyal Grunebaum

Authors
  1. Michael Tsui
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Eyal Grunebaum
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Eyal Grunebaum .

Editor information

Editors and Affiliations

  1. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

Rights and permissions

Reprints and permissions

Copyright information

© 2022 Springer Nature Switzerland AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Tsui, M., Grunebaum, E. (2022). Purine Nucleoside Phosphorylase Deficiency. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_89-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-66816-1_89-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-66816-1

  • Online ISBN: 978-3-319-66816-1

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation