Adenine Ribonucleotide (AXP) Depletion Due to Inherited Deficiency of Adenosine Deaminase 1 (ADA)

Adenosine deaminase 1-deficient severe combined immune deficiency (ADA-SCID) has widely been attributed to the toxic accumulation of adenine deoxyribonucleotides (dAXP) derived from 2’-deoxyadenosine (dAdo). The presence of dAXP in red blood cells (RBC) is pathognomonic, and higher dAXP levels track...

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Hlavní autoři:	Teresa K. Tarrant, Pawan Bali, Susan J. Kelly, Ines Santisteban, Francisco X. Arredondo-Vega, John Kees Frelinger, Rishi Rampersad, Michael S. Hershfield
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Rockefeller University Press 2026-05-01
Edice:	Journal of Human Immunity
On-line přístup:	https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.26/282008/Adenine-Ribonucleotide-AXP-Depletion-Due-to
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