Effects of purine nucleoside phosphorylase deficiency on thymocyte development

Journal of Allergy and Clinical Immunology

Volumn 128, Issue 4, 2011, Pages

  Papinazath, Taniya ^a,b   Min, Wexian ^a   Sujiththa, Suntharalingam ^a   Cohen, Amos ^a   Ackerley, Cameron ^a   Roifman, Chaim M ^a   Grunebaum, Eyal ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

apoptosis; immune deficiency; mice; proliferation; Purine nucleoside phosphorylase; thymocytes

Indexed keywords

BROXURIDINE; CASPASE; CD4 ANTIGEN; CD8 ANTIGEN; CELL NUCLEUS DNA; CYTOCHROME C; DEOXYGUANOSINE; FAS LIGAND; PURINE NUCLEOSIDE PHOSPHORYLASE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; CELL COUNT; CELL MATURATION; CELL PROLIFERATION; CONTROLLED STUDY; DNA FRAGMENTATION; ENZYME ACTIVITY; ENZYME INHIBITION; EX VIVO STUDY; HEMATOPOIETIC STEM CELL; MITOCHONDRIAL MEMBRANE POTENTIAL; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN INDUCTION; PROTEIN SECRETION; PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; THYMOCYTE; THYMUS;

EID: 80053576718     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2011.07.039     Document Type: Article

References (33)

1. M. Hershfield Combined immune deficiencies due to purine enzyme defects E.R. Stiehm, H.D. Ochs, J.A. Winkelstein, Immunologic disorders in infants and children 5th ed. 2004 Elsevier Philadelphia 480 504
2. R. Alonso, M. López-Guerra, R. Upshaw, S. Bantia, C. Smal, and F. Bontemps Forodesine has high antitumor activity in chronic lymphocytic leukemia and activates p53-independent mitochondrial apoptosis by induction of p73 and BIM Blood 114 2009 1563 1575
3. C.J. Van De Wiele, J.G. Vaughn, M.R. Blackburn, C.A. Ledent, M. Jacobson, and H. Jiang Adenosine kinase inhibition promotes survival of fetal adenosine deaminase-deficient thymocytes by blocking dATP accumulation J Clin Invest 110 2002 395 402 (Pubitemid 34847972)
4. T. Robak, E. Lech-Maranda, A. Korycka, and E. Robak Purine nucleoside analogs as immunosuppressive and antineoplastic agents: mechanism of action and clinical activity Curr Med Chem 13 2006 3165 3189 (Pubitemid 44680862)
5. E. Arpaia, P. Benveniste, A. Di Cristofano, Y. Gu, I. Dalal, and S. Kelly Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice J Exp Med 191 2000 2197 2208
6. A. Cohen, E. Grunebaum, E. Arpaia, and C.M. Roifman Immunodeficiency caused by purine nucleoside phosphorylase deficiency Immunol Allergy Clin North Am 20 2000 143 159 (Pubitemid 30116503)
7. J. Hutcheson, and H. Perlman Loss of Bim results in abnormal accumulation of mature CD4-CD8-CD44-CD25- thymocytes Immunobiology 212 2007 629 636
8. E. Arpaia, M. Shahar, H. Dadi, A. Cohen, and C.M. Roifman Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase Cell 76 1994 947 958 (Pubitemid 24085331)
9. L.F. Thompson, J.G. Vaughn, A.B. Laurent, M.R. Blackburn, and C.J. Van De Wiele Mechanisms of apoptosis in developing thymocytes as revealed by adenosine deaminase-deficient fetal thymic organ cultures Biochem Pharmacol 66 2003 1595 1599 (Pubitemid 38373351)
10. C.E. Edgar, L.D. Lindquist, D.L. McKean, A. Strasser, and R.J. Bram CAML regulates Bim-dependent thymocyte death Cell Death Differ 17 2010 1566 1576
11. C.J. Van De Wiele, M.L. Joachims, A.M. Fesler, J.G. Vaughn, M.R. Blackburn, and S.T. McGee Further differentiation of murine double-positive thymocytes is inhibited in adenosine deaminase-deficient murine fetal thymic organ culture J Immunol 176 2006 5925 5933
12. T.M. Schmitt, and J.C. Zúñiga-Pflücker T-cell development, doing it in a dish Immunol Rev 209 2006 95 102
13. S. Biswas, Q. Shi, L. Matise, S. Cleveland, U. Dave, and S. Zinkel A role for pro-apoptotic Bax and Bak in T cell differentiation and transformation Blood 116 2010 5237 5246
14. M.G. Hu, A. Deshpande, M. Enos, D. Mao, E.A. Hinds, and G.F. Hu A requirement for cyclin-dependent kinase 6 in thymocyte development and tumorigenesis Cancer Res 69 2009 810 818
15. S. Iacovelli, I. Iosue, S. Di Cesare, and M. Guttinger Lymphoid EVA1 expression is required for DN1-DN3 thymocytes transition PLoS One 4 2009 e7586
16. A. Toro, and E. Grunebaum TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice J Clin Invest 116 2006 2717 2726 (Pubitemid 44511635)
17. D. Arnoult Apoptosis-associated mitochondrial outer membrane permeabilization assays Methods 44 2008 229 234 (Pubitemid 351296439)
18. M.L. Markert Purine nucleoside phosphorylase deficiency Immunodefic Rev 3 1991 45 81
19. A. Cohen, J.W. Lee, H.M. Dosch, and E.W. Gelfand The expression of deoxyguanosine toxicity in T lymphocytes at different stages of maturation J Immunol 125 1980 1578 1582 (Pubitemid 10018565)
20. A. Toro, M. Paiva, C. Ackerley, and E. Grunebaum Intracellular delivery of purine nucleoside phosphorylase (PNP) fused to protein transduction domain corrects PNP deficiency in vitro Cell Immunol 240 2006 107 115 (Pubitemid 44376635)
21. I.R. Matei, R.A. Gladdy, L.M. Nutter, A. Canty, C.J. Guidos, and J.S. Danska ATM deficiency disrupts Tcra locus integrity and the maturation of CD4+CD8+ thymocytes Blood 109 2007 1887 1896 (Pubitemid 46348184)
22. L. Gangi-Peterson, D.H. Sorscher, J.W. Reynolds, T.B. Kepler, and B.S. Mitchell Nucleotide pool imbalance and adenosine deaminase deficiency induce alterations of N-region insertions during V(D)J recombination J Clin Invest 103 1999 833 841 (Pubitemid 29152629)
23. G.A. Kicska, L. Long, H. Hörig, C. Fairchild, P.C. Tyler, and R.H. Furneaux Immucillin H, a powerful transition-state analog inhibitor of purine nucleoside phosphorylase, selectively inhibits human T lymphocytes Proc Natl Acad Sci U S A 98 2001 4593 4598 (Pubitemid 32295021)
24. K. Balakrishnan, R. Nimmanapalli, F. Ravandi, M.J. Keating, and V. Gandhi Forodesine, an inhibitor of purine nucleoside phosphorylase, induces apoptosis in chronic lymphocytic leukemia cells Blood 108 2006 2392 2398 (Pubitemid 44497524)
25. H.A. Simmonds, L.D. Fairbanks, G.S. Morris, G. Morgan, A.R. Watson, and P. Timms Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency Arch Dis Child 62 1987 385 391
26. M. Johansson, and A. Karlsson Cloning and expression of human deoxyguanosine kinase cDNA Proc Natl Acad Sci U S A 93 1996 7258 7262 (Pubitemid 26243536)
27. L. Wang, U. Hellman, and S. Eriksson Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA FEBS Lett 390 1996 39 43 (Pubitemid 26233263)
28. F.F. Snyder, J.P. Jenuth, E.R. Mably, and R.K. Mangat Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse Proc Natl Acad Sci U S A 94 1997 2522 2527 (Pubitemid 27136908)
29. S.G. Apasov, M.R. Blackburn, R.E. Kellems, P.T. Smith, and M.V. Sitkovsky Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling J Clin Invest 108 2001 131 141 (Pubitemid 32634930)
30. A. Ma, J.C. Pena, B. Chang, E. Margosian, L. Davidson, and F.W. Alt Bclx regulates the survival of double-positive thymocytes Proc Natl Acad Sci U S A 92 1995 4763 4767
31. I. Dalal, E. Grunebaum, A. Cohen, and C.M. Roifman Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient Clin Genet 59 2001 430 437 (Pubitemid 32605810)
32. Y. Yu, A. Arora, W. Min, C.M. Roifman, and E. Grunebaum EdU incorporation is an alternative non-radioactive assay to [(3)H]thymidine uptake for in vitro measurement of mice T-cell proliferations J Immunol Methods 350 2009 29 35
33. B. Cassani, M. Mirolo, F. Cattaneo, U. Benninghoff, M. Hershfield, and F. Carlucci Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients Blood 111 2008 4209 4219