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Reassessing AXP depletion due to inherited deficiency of adenosine deaminase 1

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Extreme mixed immune deficiency (SCID) as a consequence of inherited deficiency of adenosine deaminase 1 (ADA or ADA1) has been attributed to 2 results of two’-deoxyadenosine (dAdo): (1) deoxyadenosine triphosphate (dATP) accumulation blocking DNA synthesis and inducing apoptosis in immature lymphocytes and (2) S-adenosylhomocysteine hydrolase inactivation resulting in inhibition of transmethylation reactions. The presence of dAdo nucleotides (dAXP) in purple blood cells (RBCs) is pathognomonic, and dAXP ranges are larger in infants with ADA-deficient SCID than in older sufferers with a later onset of mixed immune deficiency.

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