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1 ADA deficiency predisposes to the development of PAP, wh
6 oxyadenosine (the toxic moiety in congenital ADA deficiency) for Ado, did not lead to equivalent toxi
8 represent the first genetic animal model for ADA deficiency and provide insight into the tissue-speci
9 ing the clinical results of gene therapy for ADA deficiency and other genetic diseases involving HSC
17 e also significantly lessened the effects of ADA deficiency and prevented the accumulation of dATP.
18 birth from all 3 patients with delayed-onset ADA deficiency had normal TREC levels, but TRECs were un
22 servational cohorts reveal a relative plasma ADA deficiency at birth, followed by a gradual maturatio
23 ments with thymocytes ex vivo confirmed that ADA deficiency reduces tyrosine phosphorylation of TCR-a
24 studies to investigate the possibility that ADA deficiency is associated with a stem cell defect.
25 from spleens of ADA(-/-) mice revealed that ADA deficiency is accompanied by TCR activation defects
30 lowed by apoptosis as the mechanism by which ADA deficiency leads to reduced thymic T cell production
31 ce that retain many features associated with ADA deficiency in humans, including a combined immunodef
32 n-lymphoid abnormalities are associated with ADA deficiency, however, little is known about how these
39 We have diagnosed PAP among patients with ADA deficiency more commonly in the last 10 years than p
40 absolute neutrophil counts of patients with ADA deficiency vary inversely with the accumulation of d