ライフサイエンスコーパス: ADA deficiency

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1 ADA deficiency predisposes to the development of PAP, wh

2 Although ADA deficiency has been analyzed in cell culture and mur

3 severe combined immunodeficiency (SCID) and ADA deficiency.

4 features of all patients with SCID caused by ADA deficiency in a single center were analyzed.

5 oxyadenosine (the toxic moiety in congenital ADA deficiency) for Ado, did not lead to equivalent toxi

6 represent the first genetic animal model for ADA deficiency and provide insight into the tissue-speci

7 ing the clinical results of gene therapy for ADA deficiency and other genetic diseases involving HSC

8 ms that may underlie the SCID resulting from ADA deficiency.

9 umulate and disrupt thymocyte development in ADA deficiency.

10 contributing to autoimmune manifestations in ADA deficiency.

11 ing postnatal mice admissible to analysis of ADA deficiency.

12 erinatally, preventing postnatal analysis of ADA deficiency.

13 t ADA-SCID and 2 healthy newborn carriers of ADA deficiency.

14 hese relate to the metabolic consequences of ADA deficiency.

15 e also significantly lessened the effects of ADA deficiency and prevented the accumulation of dATP.

16 birth from all 3 patients with delayed-onset ADA deficiency had normal TREC levels, but TRECs were un

17 ntifies newborns with delayed- or late-onset ADA deficiency.

18 n B cell tolerance in the setting of partial ADA deficiency that is corrected by gene therapy.

19 e onset); healthy individuals with "partial" ADA deficiency have been identified.

20 servational cohorts reveal a relative plasma ADA deficiency at birth, followed by a gradual maturatio

21 ments with thymocytes ex vivo confirmed that ADA deficiency reduces tyrosine phosphorylation of TCR-a

22 studies to investigate the possibility that ADA deficiency is associated with a stem cell defect.

23 from spleens of ADA(-/-) mice revealed that ADA deficiency is accompanied by TCR activation defects

24 These data suggest that ADA deficiency leads to the induction of mitochondria-de

25 sing severe combined immunodeficiency due to ADA deficiency.

26 To assess whether ADA deficiency affects the establishment of B cell toler

27 mportant component of the mechanism by which ADA deficiency impairs thymocyte development.

28 lowed by apoptosis as the mechanism by which ADA deficiency leads to reduced thymic T cell production

29 ce that retain many features associated with ADA deficiency in humans, including a combined immunodef

30 n-lymphoid abnormalities are associated with ADA deficiency, however, little is known about how these

31 ncy and pulmonary phenotypes associated with ADA deficiency.

32 te to the B-cell dysfunction associated with ADA deficiency.

33 sis for the immune phenotype associated with ADA deficiency.

34 tributed to the death of only 1 patient with ADA deficiency.

35 We have diagnosed PAP among patients with ADA deficiency more commonly in the last 10 years than p

36 absolute neutrophil counts of patients with ADA deficiency vary inversely with the accumulation of d

37 ologic characteristics between patients with ADA deficiency with or without PAP.

38 Among 16 consecutive patients with ADA deficiency, 7 had BAL fluid containing periodic acid

39 ipheral blood lymphocytes from patients with ADA deficiency, an inherited disorder of immunity.

40 alveolar proteinosis (PAP) in patients with ADA deficiency.

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