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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References
Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Prim. 2015;1:15061.
Flinn AM, Gennery AR. Adenosine deaminase deficiency: a review. Orphanet J Rare Dis. 2018;13(1):65.
Grunebaum E, Cohen A, Roifman CM. Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies. Curr Opin Allergy Clin Immunol. 2013;13(6):630–8.
Hershfield MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol. 2003;15(5):571–7.
Hershfield M. Adenosine deaminase deficiency. 2006 Oct 3 [Updated 2017 Mar 16]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993–2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1483/
Hirschhorn R, Candotti F. Immunodeficiency due to defects of purine metabolism. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases. 2nd ed. New York: Oxford University Press; 2006. p. 169–96.
Sauer AV, Brigida I, Carriglio N, Aiuti A. Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. Front Immunol. 2012;3:265.
Whitmore KV, Gaspar HB. Adenosine deaminase deficiency – more than just an immunodeficiency. Front Immunol. 2016;7:314.
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Derfalvi, B. (2018). ADA and PNP Deficiency. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_172-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_172-1
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