Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases

Molecular Genetics and Metabolism Reports

Volumn 1, Issue 1, 2014, Pages 324-333

  Jilkina, O ^a   Thompson, J R ^b   Kwan, L ^a   Van Caeseele, P ^a,b   Rockman Greenberg, C ^a   Schroeder, M L ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b CADHAM PROVINCIAL LABORATORY   (Canada)

Author keywords

Archived Guthrie cards; Dried blood spots; Newborn screening; Severe Combined Immunodeficiency; T cell positive primary immunodeficiency; T cell receptor excision circle

Indexed keywords

EID: 84905827096     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2014.07.003     Document Type: Article

References (22)

1. K. Chan, and J.M. Puck Development of population-based newborn screening for severe combined immunodeficiency J. Allergy Clin. Immunol. 115 2005 391 398 (Pubitemid 40215109)
2. M.W. Baker, W.J. Grossman, R.H. Laessig, G.L. Hoffman, C.D. Brokopp, D.F. Kurtycz, M.F. Cogley, T.J. Litsheim, M.L. Katcher, and J.M. Routes Development of a routine newborn screening protocol for severe combined immunodeficiency J. Allergy Clin. Immunol. 124 2009 522 527
3. J.L. Gerstel-Thompson, J.F. Wilkey, J.C. Baptiste, J.S. Navas, S.Y. Pai, K.A. Pass, R.B. Eaton, and A.M. Comeau High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening Clin. Chem. 56 2010 1466 1474
4. A. Kwan, J.A. Church, M.J. Cowan, R. Agarwal, N. Kapoor, D.B. Kohn, D.B. Lewis, S.A. McGhee, T.B. Moore, E.R. Stiehm, M. Porteus, C.P. Aznar, R. Currier, F. Lorey, and J.M. Puck Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years J. Allergy Clin. Immunol. 132 2013 140 150
5. L.A. Myers, D.D. Patel, J.M. Puck, and R.H. Buckley Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival Blood 99 2002 872 878 (Pubitemid 34525548)
6. D.C. Douek, R.A. Vescio, M.R. Betts, J.M. Brenchley, B.J. Hill, L. Zhang, J.R. Berenson, R.H. Collins, and R.A. Koup Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution Lancet 355 2000 1875 1881 (Pubitemid 30311880)
7. M.D. Hazenberg, S.A. Otto, J.W. Cohen Stuart, M.C. Verschuren, J.C. Borleffs, C.A. Boucher, R.A. Coutinho, J.M. Lange, T.F. Rinke de Wit, A. Tsegaye, J.J. van Dongen, D. Hamann, R.J. de Boer, and F. Miedema Increased cell division but not thymic dysfunction rapidly affects the T-cell receptor excision circle content of the naive T cell population in HIV-1 infection Nat. Med. 6 2000 1036 1042
8. Y. Morinishi, K. Imai, N. Nakagawa, H. Sato, K. Horiuchi, Y. Ohtsuka, Y. Kaneda, T. Taga, H. Hisakawa, R. Miyaji, M. Endo, T. Oh-Ishi, Y. Kamachi, K. Akahane, C. Kobayashi, M. Tsuchida, T. Morio, Y. Sasahara, S. Kumaki, K. Ishigaki, M. Yoshida, T. Urabe, N. Kobayashi, Y. Okimoto, J. Reichenbach, Y. Hashii, Y. Tsuji, K. Kogawa, S. Yamaguchi, H. Kanegane, T. Miyawaki, M. Yamada, T. Ariga, and S. Nonoyama Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards J. Pediatr. 155 2009 829 833
9. J.W. Verbsky, M.W. Baker, W.J. Grossman, M. Hintermeyer, T. Dasu, B. Bonacci, S. Reddy, D. Margolis, J. Casper, M. Gries, K. Desantes, G.L. Hoffman, C.D. Brokopp, C.M. Seroogy, and J.M. Routes Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011) J. Clin. Immunol. 32 2012 82 88
10. J.E. Hale, F.A. Bonilla, S.Y. Pai, J.L. Gerstel-Thompson, L.D. Notarangelo, R.B. Eaton, and A.M. Comeau Identification of an infant with severe combined immunodeficiency by newborn screening J. Allergy Clin. Immunol. 126 2010 1073 1074
11. J. Rozmus, A. Junker, M.L. Thibodeau, D. Grenier, S.E. Turvey, W. Yacoub, J. Embree, E. Haddad, J.M. Langley, R.M. Ramsingh, V.A. Singh, R. Long, and K.R. Schultz Severe Combined Immunodeficiency (SCID) in Canadian children: a national surveillance study J. Clin. Immunol. 33 2013 1310 1316
12. C.M. Roifman, H. Dadi, R. Somech, A. Nahum, and N. Sharfe Characterization of ζ-associated protein, 70 kD (ZAP70)-deficient human lymphocytes J. Allergy Clin. Immunol. 126 2010 1226 1233
13. J.M. Puck Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles J. Allergy Clin. 129 2012 607 616
14. C.M. Roifman, R. Somech, F. Kavadas, L. Pires, A. Nahum, I. Dalal, and E. Grunebaum Defining combined immunodeficiency J. Allergy Clin. Immunol. 130 2012 177 183
15. V. Guazzi, F. Aiuti, I. Mezzaroma, F. Mazzetta, G. Andolfi, A. Mortellaro, M. Pierdominici, R. Fantini, M. Marziali, and A. Aiuti Assessment of thymic output in common variable immunodeficiency patients by evaluation of T-cell receptor excision circles Clin. Exp. Immunol. 129 2002 346 353
16. U. Pannicke, B. Baumann, S. Fuchs, P. Henneke, A. Rensing-Ehl, M. Rizzi, A. Janda, K. Hese, M. Schlesier, K. Holzmann, S. Borte, C. Laux, E.-M. Rump, A. Rosenberg, T. Zelinski, H. Schrezenmeier, T. Wirth, S. Ehl, M.L. Schroeder, and K. Schwarz Deficiency of innate and acquired immunity caused by an IKBKB mutation N. Engl. J. Med. 369 2013 2504 2514
17. F. Serana, A. Sottini, M. Chiarini, C. Zanotti, C. Ghidini, A. Lanfranchi, L.D. Notarangelo, L. Caimi, and L. Imberti The different extent of B and T-cell immune reconstitution after hematopoietic stem cell transplantation and enzyme replacement therapies in SCID patients with adenosine deaminase deficiency J. Immunol. 185 2010 7713 7722
18. F. Marangoni, S. Trifari, S. Scaramuzza, C. Panaroni, S. Martino, L.D. Notarangelo, Z. Baz, A. Metin, F. Cattaneo, A. Villa, A. Aiuti, M. Battaglia, M.G. Roncarolo, and L. Dupré WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells J. Exp. Med. 204 2007 369 380 (Pubitemid 46294552)
19. A.A. Schäffer, U. Salzer, L. Hammarström, and B. Grimbacher Deconstructing common variable immunodeficiency by genetic analysis Curr. Opin. Genet. Dev. 17 2007 201 212 (Pubitemid 46850798)
20. N. Rezaei, E. Mahmoudi, A. Aghamohammadi, R. Das, and K.E. Nichols X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma Br. J. Haematol. 152 2011 13 30
21. J. Mallott, A. Kwan, J. Church, D. Gonzalez-Espinosa, F. Lorey, L.F. Tang, U. Sunderam, S. Rana, R. Srinivasan, S.E. Brenner, and J. Puck Newborn screening for SCID identifies patients with ataxia telangiectasia J. Clin. Immunol. 33 2013 540 549
22. S. Borte, U. von Döbeln, A. Fasth, N. Wang, M. Janzi, J. Winiarski, U. Sack, Q. Pan-Hammarström, M. Borte, and L. Hammarström Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR Blood 119 2012 2552 2555