Introduction/Background
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).
Schematic presentation of ADA and PNP metabolic pathways
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Derfalvi, B. (2020). ADA and PNP Deficiency. In: Orange, J.S., Chinen, J. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8678-7_172
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