Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

ADA and PNP Deficiency

  • Beata DerfalviEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_172-1


Adenosine deaminase (ADA) deficiency (OMIM# 608958) and purine nucleoside phosphorylase (PNP) deficiency (OMIM# 164050) are two genetic deficiencies of purine metabolism. The ADA gene on chromosome 20q13.12 encodes adenosine deaminase, an enzyme that catalyzes the irreversible deamination of adenosine and deoxyadenosine in the purine catabolic pathway. The PNP gene localized on chromosome 14q11.2 encodes purine nucleoside phosphorylase, an enzyme that catalyzes the reversible phosphorolysis of the purine nucleosides and deoxynucleosides (inosine, guanosine, deoxyinosine, and deoxyguanosine) (Fig. 1).
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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Pediatrics, IWK Health CentreDalhousie UniversityHalifaxCanada

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA