Defective ADA disrupts (deoxy)adenosine deamination

Stable Identifier
R-HSA-9734735
Type
Pathway
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective ADA disrupts (deoxy)adenosine deamination
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Normally in humans, adenosine and deoxyadenosine can be deaminated to inosine and deoxyinosine, catalyzed by ADA (adenosine deaminase). In the absence of ADA activity, however, accumulated nucleosides disrupt lymphoid cell function, leading to severe combined immunodeficiency (Hirschhorn et al. 1989, 1990).
Literature References
PubMed ID Title Journal Year
2783588 Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency

Hirschhorn, R, Tzall, S, Ellenbogen, A, Orkin, SH

J Clin Invest 1989
2166947 Hot spot mutations in adenosine deaminase deficiency

Hirschhorn, R, Tzall, S, Ellenbogen, A

Proc Natl Acad Sci U S A 1990
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
adenosine deaminase deficiency DOID:5810 ADA
Cross References
Mondo
BioModels Database
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-06-18)
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