Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville

Pediatric Allergy and Immunology

Volumn 27, Issue 1, 2016, Pages 70-77

  de Felipe, Beatriz ^a   Olbrich, Peter ^a   Lucenas, José Manuel ^a   Delgado Pecellin, Carmen ^a   Pavon Delgado, Antonio ^a   Marquez, Josefina ^b   Salamanca, Carmen ^c   Soler Palacin, Pere ^d   Gonzalez Granado, Luis Ignacio ^e   Antolin, Laura Ferreras ^f   Borte, Stephan ^g,h,i   Neth, Olaf ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^f HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^g KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^h UNIVERSITY OF LEIPZIG   (Germany)

ⁱ Klinikum St Georg   (Germany)

Author keywords

KRECS; New born screening; Severe lymphopenias; TRECS

Indexed keywords

AZATHIOPRINE; BETA ACTIN; GENETIC MARKER;

ARTICLE; B LYMPHOCYTE; B LYMPHOCYTE LYMPHOCYTOPENIA; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CROHN DISEASE; DISEASE SEVERITY; DRIED BLOOD SPOT TESTING; FEMALE; FOLLOW UP; HEMATOLOGICAL PARAMETERS; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; KAPPA DELETING RECOMBINATION EXCISION CIRCLE; LONGITUDINAL STUDY; LYMPHOCYTE SUBPOPULATION; LYMPHOCYTOPENIA; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; OBSERVATIONAL STUDY; PREMATURITY; PRIORITY JOURNAL; PROSPECTIVE STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPAIN; SYSTEMIC LUPUS ERYTHEMATOSUS; T CELL RECEPTOR EXCISION CIRCLE; T LYMPHOCYTE; T LYMPHOCYTE LYMPHOCYTOPENIA; ARTIFACT; BIRTH WEIGHT; BLOOD; CASE CONTROL STUDY; CLINICAL TRIAL; FALSE POSITIVE RESULT; GENETIC MARKER; GENETICS; GESTATIONAL AGE; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; LOW BIRTH WEIGHT; MULTICENTER STUDY; MULTIPLEX POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PROCEDURES; REAL TIME POLYMERASE CHAIN REACTION; REPRODUCIBILITY; RISK FACTOR; SEVERITY OF ILLNESS INDEX; STANDARDS;

ARTIFACTS; B-LYMPHOCYTES; BIRTH WEIGHT; CASE-CONTROL STUDIES; DRIED BLOOD SPOT TESTING; FALSE POSITIVE REACTIONS; FEMALE; GENETIC MARKERS; GESTATIONAL AGE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, LOW BIRTH WEIGHT; INFANT, NEWBORN; INFANT, PREMATURE; LONGITUDINAL STUDIES; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS; PROSPECTIVE STUDIES; REAL-TIME POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; RISK FACTORS; SEVERITY OF ILLNESS INDEX; SPAIN; T-LYMPHOCYTES;

EID: 84947968452     PISSN: 09056157     EISSN: 13993038     Source Type: Journal    
DOI: 10.1111/pai.12501     Document Type: Article

References (31)

1. Borte S, Wang N, Oskarsdottir S, von Döbeln U, Hammarström L. Newborn screening for primary immunodeficiency: beyond SCID and XLA. Ann N Y Acad Sci 2011: 1246: 118-30.
2. Gathmann B, Binder N, Ehl S, Kindle G, ESID Registry Working Party. The European internet-based patient and research database for primary immunodeficiencies: update 2011. Clin Exp Immunol 2012: 167: 479-91.
3. Kwan A, Abraham RS, Currier R, et al. Newborn screening for combined immunodeficiency in 11 screening programs in the United States. JAMA 2014: 312: 729-38.
4. Winkelstein JA, Marino MC, Lederman HM, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine 2006: 85: 193-202.
5. Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ. Clinical features that identify children with primary immunodeficiency. Pediatrics 2011: 127: 810-6.
6. Brown L, Xu-Bayford J, Allwood Z, Slatter M, Cant A, Davies EG. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case of newborn screening. Blood 2011: 17: 2443-6.
7. Chan A, Scalchunes C, Boyle M, Puck JM. Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol 2011: 138: 3-8.
8. Borte S, von Döbeln U, Hammarström L. Guidelines for newborn screening of primary immunodeficiency diseases. Curr Opin Hematol 2013: 20: 48-54.
9. Modell V, Knaus M, Modell F. 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: 60: 145-52.
10. Van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM. TREC based newborn screening for severe combined immunodeficiency disease: a systematic review. J Clin Immunol 2015: 35: 416-30.
11. Hacein-Bey-Abina S, Pai SY, Gaspar HB, et al. A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med 2014: 371: 1407-17.
12. Pai SY, Logan BR, Griffith LM, et al. Transplantation outcome for severe combined immunodeficiency, 2000-2009. N Engl J Med 2014: 371: 434-46.
13. Bakare N, Menschik D, Tiernan R, Hua W, Martin D. Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS). Vaccine 2010: 28: 6609-12.
14. Marciano BE, Huang CY, Joshi G, et al. BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. J Allergy Clin Immunol 2014 Apr: 133: 1134-41.
15. Plebani A, Soresina A, Rondelli R, et al. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol 2002: 104: 221-30.
16. Morinishi Y, Imai K, Nakagawa N, et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr 2009: 155: 829-33.
17. van Zelm MC, van der Burg M, Langerak AW, van Dongen JJ. PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders. Front Immunol 2011: 4: 12.
18. Borte S, von Döbeln U, Fasth A, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012: 119: 2552-5.
19. Ombrone D, Giocaliere E, Forni G, Malvagia S, la Marca G. Expanded newborn screening by mass spectrometry: New tests, future perspectives. Mass Spectrom Rev. 2015 May 7. doi:10.1002/mas.21463.
20. Chinen J, Notarangelo LD, Shearer WT. Advances in basic and clinical immunology in 2014. J Allergy Clin Immunol 2015: 135: 1132-41.
21. http://primaryimmune.org/idf-advocacycenter/idf-scid-newborn-screeningcampaign/
22. Audrain M, Thomas C, Mirallie S, et al. 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 2014: 150: 137-9.
23. Adams SP, Rashid S, Premachandra T, et al. Screening of neonatal UK dried blood spots using a duplex TREC screening assay. J Clin Immunol 2014: 34: 323-30.
24. Olbrich P, de Felipe B, Delgado-Pecellin C, et al. A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia. An Pediatr (Barc) 2014: 81: 310-7.
25. la Marca G, Canessa C, Giocaliere E, et al. Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. J Allergy Clin Immunol 2013: 131: 1604-10.
26. Speckmann C, Neumann C, Borte S, et al. Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. J Allergy Clin Immunol 2012: 130: 991-4.
27. Kwan A, Puck JM. History and current status of newborn screening for severe combined immunodeficiency. Semin Perinatol 2015: 39: 194-205.
28. Somech R, Lev A, Simon AJ, et al. Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study. Isr Med Assoc 2013: 15: 404-9.
29. Vogel BH, Bonagura V, Weinberg GA, et al. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol 2014: 34: 289-303.
30. Rechavi E, Lev A, Lee YN, et al. Timely and spatially regulated maturation of B and T cell repertoire during human fetal development. Sci Transl Med 2015: 7: 276ra25.
31. Clément MC, Mahlaoui N, Mignot C, et al. Systemic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: analysis of cost-effectiveness based on French real field data. J Allergy Clin Immunol 2015: 135: 1589-93.