A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia;Primer estudio piloto en España sobre el cribado neonatal de las inmunodeficiencias primarias: TRECS y KRECS identifican linfopenias T y B graves

Anales de Pediatria

Volumn 81, Issue 5, 2014, Pages 310-317

  Olbrich, P ^a   De Felipe, B ^a   Delgado Pecellin, C ^a   Rodero, R ^a   Rojas, P ^a   Aguayo, J ^a   Marquez, J ^b   Casanovas, J ^b   Sanchez B ^a   Lucena, J M ^a   Ybot Gonzalez, P ^a   Borte, S ^c,d,e   Neth, O ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF LEIPZIG   (Germany)

^e Klinikum St Georg   (Germany)

Author keywords

Lymphopenia; Newborn screening; Primary immunodeficiency diseases; Severe combined immunodeficiency; X linked agammaglo bulinaemia

Indexed keywords

CIRCULAR DNA;

AGAMMAGLOBULINEMIA; ALGORITHM; B LYMPHOCYTE; BLOOD; GENETIC DISEASES, X-LINKED; GENETICS; HUMAN; LONGITUDINAL STUDY; LYMPHOPENIA; NEWBORN; NEWBORN SCREENING; PILOT STUDY; PROCEDURES; PROSPECTIVE STUDY; SEVERE COMBINED IMMUNODEFICIENCY; SEVERITY OF ILLNESS INDEX; SPAIN; T LYMPHOCYTE;

AGAMMAGLOBULINEMIA; ALGORITHMS; B-LYMPHOCYTES; DNA, CIRCULAR; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; LONGITUDINAL STUDIES; LYMPHOPENIA; NEONATAL SCREENING; PILOT PROJECTS; PROSPECTIVE STUDIES; SEVERE COMBINED IMMUNODEFICIENCY; SEVERITY OF ILLNESS INDEX; SPAIN; T-LYMPHOCYTES;

EID: 84930061753     PISSN: 16954033     EISSN: 16959531     Source Type: Journal    
DOI: 10.1016/j.anpedi.2014.08.002     Document Type: Article

References (26)

1. L.D. Notarangelo Primary immunodeficiencies J Allergy Clin Immunol. 125 2010 S182 S194
2. B. Gathmann, B. Grimbacher, J. Beauté, Y. Dudoit, N. Mahlaoui, and A. Fischer The European internet-based patient and research database for primary immunodeficiencies: Results 2006-2008 Clin Exp Immunol. 157 Suppl. 1 2009 3 11
3. V. Modell, B. Gee, D.B. Lewis, J.S. Orange, C.M. Roifman, and J.M. Routes Global study of primary immunodeficiency diseases (PI) - diagnosis, treatment, and economic impact: An updated report from the Jeffrey Modell Foundation Immunol Res 51 2011 61 70
4. A. Subbarayan, G. Colarusso, S.M. Hughes, A.R. Gennery, M. Slatter, and A.J. Cant Clinical features that identify children with primary immunodeficiency diseases Pediatrics. 127 2011 810 816
5. M. Cavazzana-Calvo, I. André-Schmutz, and A. Fischer Haematopoietic stem cell transplantation for SCID patients: Where do we stand? Br J Haematol. 160 2013 146 152
6. E. Kildebeck, J. Checketts, and M. Porteus Gene therapy for primary immunodeficiencies Curr Opin Pediatr. 24 2012 731 738
7. L. Brown, J. Xu-Bayford, Z. Allwood, M. Slatter, A. Cant, and E.G. Davies Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: The case for newborn screening Blood. 17 2011 2443 2446
8. A. Chan, C. Scalchunes, M. Boyle, and J.M. Puck Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective survey Clin Immunol. 138 2011 3 8
9. N.C. Patel, P.M. Hertel, M.K. Estes, M. de la Morena, A.M. Petru, and L.M. Noroski Vaccine-acquired rotavirus in infants with severe combined immunodeficiency N Engl J Med. 362 2010 314 319
10. Y. Morinishi, I. Kohsuke, N. Nakagawa, H. Sato, K. Horiuchi, and Y. Ohtsuka Identification of severe combined Immunodeficiency by T-cell Receptor excision circles quantification using neonatal Guthrie cards J Pediatr. 155 2009 829 833
11. K. Chan, and J.M. Puck Development of population-based newborn screening for severe combined immunodeficiency J Allergy Clin Immunol. 115 2005 391 398
12. J.M. Puck Laboratory technology for population-based screening for severe combined immunodeficiency in neonatos: The winner is T-cell receptor excision circles J Allergy Clin Immunol 129 2012 607 616
13. S. Borte, U. von Döbeln, A. Fasth, N. Wang, M. Janzi, and J. Winiarski Blood. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR Blood 119 2012 2552 2555
14. S. Borte, N. Wang, S. Oskarsdottir, U. von Döbeln, and L. Hammarström Newborn screening for primary immunodeficiencies: Beyond SCID and XLA Ann NY Acad Sci 1246 2011 118 130
15. J. Mallott, A. Kwan, J. Church, D. Gonzalez-Espinosa, F. Lorey, and L.F. Tang Newborn screening for SCID identifies patients with ataxia telangiectasia J Clin Immunol. 33 2013 540 549
16. M.C. Van Zelm, M. van der Burg, A.W. Langerak, and J.J. van Dongen PID comes full circle: Applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders Front Immunol. 2 2011 12
17. K. Chan A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID) Mol Genet Metab 104 2011 383 389
18. V. Modell, M. Knaus, and F. Modell An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia Immunol Res. 2014 [Epub ahead of print]
19. S. Borte, U. von Döbeln, and L. Hammarström Guidelines for newborn screening of primary immunodeficiency diseases Curr Opin Hematol. 20 2013 48 54
20. A. Kwan, J.A. Church, M.J. Cowan, R. Agarwal, N. Kapoor, and D.B. Kohn 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
21. H.B. Gaspar, L. Hammarström, N. Mahlaoui, M. Borte, and S. Borte The case for mandatory newborn screening for Severe Combined Immunodeficiency (SCID) J Clin Immunol. 34 2014 393 397
22. S.P. Adams, S. Rashid, T. Premachandra, K. Harvey, A. Ifederu, and M.C. Wilson Screening of neonatal UK dried blood spots using a duplex TREC screening assay J Clin Immunol. 34 2014 323 330
23. C. Speckmann, C. Neumann, S. Borte, G. la Marca, J.O. Sass, and E. Wiech Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis J Allergy Clin Immunol. 130 2012 991 994
24. M. Audrain, C. Thomas, S. Mirallie, N. Bourgeois, V. Sebille, and H. Rabetrano Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study Clin Immunol. 150 2014 137 139
25. R. Somech, A. Lev, A.J. Simon, D. Korn, B.Z. Garty, and N. Amariglio Newborn screening for severe T and B cell immunodeficiency in Israel: A pilot study Isr Med Assoc J. 15 2013 404 409
26. J.M. Routes Statewide newborn screening for severe T-cell lymphopenia JAMA 302 2009 2465 2470