Value of Newborn Screening Programs for Severe Combined Immunodeficiency
Severe Combined Immunodeficiency Disease (SCID) is life-threatening disease of infancy and childhood characterized by recurrent infections and failure to thrive. Given the modern medical progress made available for treating SCID, early identification of these children is paramount to their wellbeing and overall survival into adulthood. Newborn screening (NBS) programs provide the opportunity to identify SCID patients before life-threatening infections can manifest. The T-cell receptor excision circles (TRECs) assay currently used for SCID screening has been shown to satisfy all parameters of an effective screening test. Its widespread use is indicated by the time-sensitive nature of the disease, its efficacy in reducing morbidity and mortality in these patients, and the cost-effectiveness of prompt recognition versus long-term management. While immensely beneficial, screening tests still hold limitations that require analyzing. Follow-up measures for SCID identification programs have identified ambiguity and inconsistency among testing algorithms across facilities and technical errors that have causes inaccurate results. Considering fewer than 20% of SCID patients report a positive family history and the lethal consequences of disease if left untreated, a screening program is a highly valuable tool for early diagnosis and prompt intervention.
Keywords:SCID, Newborn Screening, Excision Circles
Schwartz RA. Pediatric Severe Combined Immunodeficiency. Jyonouchi H, editor. 2018Oct11 [cited 2020Feb25]; Available from: https://emedicine.medscape.com/article/888072
Gennery AR. Diagnosis of severe combined immunodeficiency. Journal of Clinical Pathology [Internet]. 2001Mar1 [cited 2020Mar4];54(3):191–5. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731376/
Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, et al. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. New England Journal of Medicine [Internet]. 2016;375(22):2165–76. Available from: https://www.nejm.org/doi/pdf/10.1056/NEJMoa1509164
Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunological Reviews [Internet]. 2018 [cited 2020Mar4];287(1):241–52. Available from: https://onlinelibrary-wiley-com.elib.tcd.ie/doi/full/10.1111/imr.12729?sid=nlm:pubmed
Fischer A. Severe combined immunodeficiencies (SCID). Clinical and Experimental Immunology [Internet]. 2000Nov [cited 2020Mar14];122(2):143–9. Available from: https://www.ncbi.nlm.nih.gov/pubmed/11091267
Spek JVD, Groenwold RHH, Burg MVD, Montfrans JMV. TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review. Journal of Clinical Immunology [Internet]. 2015Apr17;35(4):416–30. Available from: https://www-ncbi-nlm-nih-gov.elib.tcd.ie/pmc/articles/PMC4438204/
Buckley RH. Scid; A Pediatric Emergency. North Carolina Medical Journal [Internet]. 2019Jan [cited 2020Feb28];80(1):55–6. Available from: https://www.ncmedicaljournal.com/content/80/1/55.full?utm_source=TrendMD&utm_medium=cpc&utm_campaign=North_Carolina_Medical_Journal_TrendMD_0
Severe Combined Immunodeficiency (SCID). Center for Disease Control and Prevention [Internet]. 2015Sept17. Available from https://www.cdc.gov/newbornscreening/scid.html
Quinn J, Orange JS, Modell V, Modell F. The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time. Immunologic Research [Internet]. 2020Mar4 [cited 2020Mar5]; Available from: https://link-springer-com.elib.tcd.ie/article/10.1007/s12026-020-09117-9
Audrain MAP, Léger AJC, Hémont CAF, Mirallié SM, Cheillan D, Rimbert MGM, et al. Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study). Journal of Clinical Immunology [Internet]. 2018 [cited 2020Mar1];38(7):778–86. Available from: https://link-springer-com.elib.tcd.ie/article/10.1007/s10875-018-0550-7#ref-CR1
Priante E, Cavicchiolo ME, Baraldi E. RSV infection and respiratory sequelae. Minerva Pediatrica [Internet]. 2018Dec [cited 2020Mar1];70(6):623–33. Available from: https://www.ncbi.nlm.nih.gov/pubmed/30379052
Chan K1, Davis J, Pai SY, Bonilla FA, Puck JM, Apkon M. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Molecular Genetics and Metabolism [Internet]. 2011Nov;104(3): 383-389. Available from: https://www.ncbi.nlm.nih.gov/pubmed/21810544
Elsink K, Montfrans JMV, Gijn MEV, Blom M, Hagen PMV, Kuijpers T, et al. Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review. Clinical Immunology [Internet]. 2020Feb5 [cited 2020Mar4];213. Available from: https://www-ncbi-nlm-nih-gov.elib.tcd.ie/pubmed/32035178
Huang S, Zhao Z. Advances in Newborn Screening and Immune System Reconstruction of Severe Combined Immunodeficiency. Journal of Zhejiang University [Internet]. 2019Jun25;48(4): 351-357. Available from: https://www-ncbi-nlm-nih-gov.elib.tcd.ie/pubmed/31901036
George RS, Moat SJ. Effect of Dried Blood Spot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis. Clinical Chemistry [Internet]. 2016Jan [cited 2020Mar4];62(3):466–75. Available from: https://www.ncbi.nlm.nih.gov/pubmed/26647314
Copyright (c) 2021 Elisa Pirozzi
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Any non-commercial use, distribution, adaptation, and reproduction in any medium is permitted as long as the original work is properly cited. However, caution and responsibility are required when reusing as the articles on the preprint server are not peer-reviewed. Readers are advised to check for the availability of any updated or peer-reviewed version.