ADA AR unreviewed
Adenosine deaminase deficiency
Enzyme or protein defect
Adenosine deaminase
Accumulates or becomes deficient
dATP (inhibits ribonucleotide reductase)
Key features
Severe combined immunodeficiency; absent T, B and NK cells
Management
HSCT, PEG-ADA, gene therapy
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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