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Items: 1 to 20 of 221

1.
Nucleotide pool imbalance and adenosine deaminase deficiency induce alterations of N-region insertions during V(D)J recombination
Lisa Gangi-Peterson, David H. Sorscher, Jon W. Reynolds, Thomas B. Kepler, Beverly S. Mitchell
J Clin Invest. 1999 Mar 15; 103(6): 833–841. doi: 10.1172/JCI4320
PMCID:
PMC408138
AbstractArticlePDF–297K
2.
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency
Donald B. Kohn, Michael S. Hershfield, Jennifer M. Puck, Alessandro Aiuti, Annaliesse Blincoe, H. Bobby Gaspar, Luigi D. Notarangelo, Eyal Grunebaum
J Allergy Clin Immunol. Author manuscript; available in PMC 2020 Mar 1.
Published in final edited form as: J Allergy Clin Immunol. 2019 Mar; 143(3): 852–863. Published online 2018 Sep 5. doi: 10.1016/j.jaci.2018.08.024
PMCID:
PMC6688493
AbstractArticlePDF–1.3M
3.
Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency.
R P Agarwal, G W Crabtree, R E Parks, Jr, J A Nelson, R Keightley, R Parkman, F S Rosen, R C Stern, S H Polmar
J Clin Invest. 1976 Apr; 57(4): 1025–1035. doi: 10.1172/JCI108344
PMCID:
PMC436746
SummaryPage BrowsePDF–1.8M
4.
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: Possible role of nucleoside kinase(s)
Dennis A. Carson, Jonathan Kaye, J. E. Seegmiller
Proc Natl Acad Sci U S A. 1977 Dec; 74(12): 5677–5681. doi: 10.1073/pnas.74.12.5677
PMCID:
PMC431856
SummaryPage BrowsePDF–932K
5.
Purine metabolism in adenosine deaminase deficiency.
G C Mills, F C Schmalstieg, K B Trimmer, A S Goldman, R M Goldblum
Proc Natl Acad Sci U S A. 1976 Aug; 73(8): 2867–2871. doi: 10.1073/pnas.73.8.2867
PMCID:
PMC430780
SummaryPage BrowsePDF–1.0M
6.
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
R Hirschhorn, V Chakravarti, J Puck, S D Douglas
Am J Hum Genet. 1991 Oct; 49(4): 878–885.
PMCID:
PMC1683191
SummaryPage BrowsePDF–1.1M
7.
Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency.
A Cohen, R Hirschhorn, S D Horowitz, A Rubinstein, S H Polmar, R Hong, D W Martin, Jr
Proc Natl Acad Sci U S A. 1978 Jan; 75(1): 472–476. doi: 10.1073/pnas.75.1.472
PMCID:
PMC411272
SummaryPage BrowsePDF–1.0M
8.
Urogenital Abnormalities in Adenosine Deaminase Deficiency
Roberta Pajno, Lucia Pacillo, Salvatore Recupero, Maria P. Cicalese, Francesca Ferrua, Federica Barzaghi, Silvia Ricci, Antonio Marzollo, Silvia Pecorelli, Chiara Azzari, Andrea Finocchi, Caterina Cancrini, Gigliola Di Matteo, Gianni Russo, Massimo Alfano, Arianna Lesma, Andrea Salonia, Stuart Adams, Claire Booth, Alessandro Aiuti
J Clin Immunol. 2020; 40(4): 610–618. Published online 2020 Apr 19. doi: 10.1007/s10875-020-00777-8
PMCID:
PMC7253380
AbstractArticlePDF–278K
9.
Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency
William P. Schrader, Bernard Pollara, Hilaire J. Meuwissen
Proc Natl Acad Sci U S A. 1978 Jan; 75(1): 446–450. doi: 10.1073/pnas.75.1.446
PMCID:
PMC411266
SummaryPage BrowsePDF–965K
10.
IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency.
S Chaffee, A Mary, E R Stiehm, D Girault, A Fischer, M S Hershfield
J Clin Invest. 1992 May; 89(5): 1643–1651. doi: 10.1172/JCI115761
PMCID:
PMC443041
SummaryPage BrowsePDF–1.6M
11.
Correction of adenosine deaminase deficiency in cultured human T and B cells by retrovirus-mediated gene transfer.
P W Kantoff, D B Kohn, H Mitsuya, D Armentano, M Sieberg, J A Zwiebel, M A Eglitis, J R McLachlin, D A Wiginton, J J Hutton, et al.
Proc Natl Acad Sci U S A. 1986 Sep; 83(17): 6563–6567. doi: 10.1073/pnas.83.17.6563
PMCID:
PMC386544
SummaryPage BrowsePDF–1.1M
12.
Long-Term and Real-World Safety and Efficacy of Retroviral Gene Therapy for Adenosine Deaminase Deficiency
Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Paola MV Rancoita, Michela Gabaldo, Francesca Dionisio, Stefania Giannelli, Federica Andrea Salerio, Francesca Ferrua, Francesca Tucci, Valeria Calbi, Vera Gallo, Salvatore Recupero, Giulia Consiglieri, Roberta Pajno, Maria Sambuco, Alessio Priolo, Chiara Ferri, Vittoria Garella, Ilaria Monti, Paolo Silvani, Silvia Darin, Miriam Casiraghi, Ambra Corti, Stefano Zancan, Margherita Levi, Daniela Cesana, Filippo Carlucci, Anna Pituch-Noworolska, Dalia AbdElaziz, Ulrich Baumann, Andrea Finocchi, Caterina Cancrini, Saverio Ladogana, Andrea Meinhardt, Isabelle Meyts, Davide Montin, Lucia Dora Notarangelo, Fulvio Porta, Marlène Pasquet, Carsten Speckmann, Polina Stepensky, Alberto Tommasini, Marco Rabusin, Zeynep Karakas, Miguel Galicchio, Lucia Leonardi, Marzia Duse, Sukru Nail Guner, Clelia Di Serio, Fabio Ciceri, Maria Ester Bernardo, Alessandro Aiuti, Maria Pia Cicalese
Nat Med. Author manuscript; available in PMC 2024 Aug 1.
Published in final edited form as: Nat Med. 2024 Feb; 30(2): 488–497. Published online 2024 Feb 14. doi: 10.1038/s41591-023-02789-4
PMCID:
PMC7615698
AbstractArticlePDF–3.0M
13.
Erythrocyte Adenosine Deaminase Deficiency without Immunodeficiency: EVIDENCE FOR AN UNSTABLE MUTANT ENZYME
Rochelle Hirschhorn, Vivien Roegner, Trefor Jenkins, Carol Seaman, Sergio Piomelli, William Borkowsky
J Clin Invest. 1979 Oct; 64(4): 1130–1139. doi: 10.1172/JCI109552
PMCID:
PMC372225
SummaryPage BrowsePDF–1.5M
14.
Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation.
S H Chen, H D Ochs, C R Scott, E R Giblett, A J Tingle
J Clin Invest. 1978 Dec; 62(6): 1386–1389. doi: 10.1172/JCI109259
PMCID:
PMC371904
SummaryPage BrowsePDF–601K
15.
Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency
D.B. Kohn, C. Booth, K.L. Shaw, J. Xu-Bayford, E. Garabedian, V. Trevisan, D.A. Carbonaro-Sarracino, K. Soni, D. Terrazas, K. Snell, A. Ikeda, D. Leon-Rico, T.B. Moore, K.F. Buckland, A.J. Shah, K.C. Gilmour, S. De Oliveira, C. Rivat, G.M. Crooks, N. Izotova, J. Tse, S. Adams, S. Shupien, H. Ricketts, A. Davila, C. Uzowuru, A. Icreverzi, P. Barman, B. Campo Fernandez, R.P. Hollis, M. Coronel, A. Yu, K.M. Chun, C.E. Casas, R. Zhang, S. Arduini, F. Lynn, M. Kudari, A. Spezzi, M. Zahn, R. Heimke, I. Labik, R. Parrott, R.H. Buckley, L. Reeves, K. Cornetta, R. Sokolic, M. Hershfield, M. Schmidt, F. Candotti, H.L. Malech, A.J. Thrasher, H.B. Gaspar
N Engl J Med. Author manuscript; available in PMC 2021 Nov 27.
Published in final edited form as: N Engl J Med. 2021 May 27; 384(21): 2002–2013. Published online 2021 May 11. doi: 10.1056/NEJMoa2027675
PMCID:
PMC8240285
AbstractArticlePDF–1.1M
16.
Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.
J Donofrio, M S Coleman, J J Hutton, A Daoud, B Lampkin, J Dyminski
J Clin Invest. 1978 Oct; 62(4): 884–887. doi: 10.1172/JCI109201
PMCID:
PMC371841
SummaryPage BrowsePDF–616K
17.
Genetic heterogeneity in partial adenosine deaminase deficiency.
R Hirschhorn, F Martiniuk, V Roegner-Maniscalco, A Ellenbogen, J L Perignon, T Jenkins
J Clin Invest. 1983 Jun; 71(6): 1887–1892. doi: 10.1172/JCI110944
PMCID:
PMC370394
SummaryPage BrowsePDF–975K
18.
Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency.
G S Adrian, J J Hutton
J Clin Invest. 1983 Jun; 71(6): 1649–1660. doi: 10.1172/JCI110920
PMCID:
PMC370370
SummaryPage BrowsePDF–2.4M
19.
Adenosine deaminase deficiency: a review
Aisling M. Flinn, Andrew R. Gennery
Orphanet J Rare Dis. 2018; 13: 65. Published online 2018 Apr 24. doi: 10.1186/s13023-018-0807-5
PMCID:
PMC5916829
AbstractArticlePDF–563K
20.
Effect of red cell transfusions, thymic hormone and deoxycytidine in severe combined immunodeficiency due to adenosine deaminase deficiency
E. G. Davies, R. J. Levinsky, Dianne R. Webster, H. Anne Simmonds, D. Perrett
Clin Exp Immunol. 1982 Nov; 50(2): 303–310.
PMCID:
PMC1536687
SummaryPage BrowsePDF–978K

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