Future Perspectives of Newborn Screening for Inborn Errors of Immunity
Newborn screening (NBS) programs continue to expand due to innovations in both test methods and treatment options. Since the introduction of the T-cell receptor excision circle (TREC) assay 15 years ago, many countries have adopted screening for severe combined immunodeficiency (SCID) in their NBS p...
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Format: | Article |
Language: | English |
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MDPI AG
2021-11-01
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Series: | International Journal of Neonatal Screening |
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Online Access: | https://www.mdpi.com/2409-515X/7/4/74 |
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author | Maartje Blom Robbert G. M. Bredius Mirjam van der Burg |
author_facet | Maartje Blom Robbert G. M. Bredius Mirjam van der Burg |
author_sort | Maartje Blom |
collection | DOAJ |
description | Newborn screening (NBS) programs continue to expand due to innovations in both test methods and treatment options. Since the introduction of the T-cell receptor excision circle (TREC) assay 15 years ago, many countries have adopted screening for severe combined immunodeficiency (SCID) in their NBS program. SCID became the first inborn error of immunity (IEI) in population-based screening and at the same time the TREC assay became the first high-throughput DNA-based test in NBS laboratories. In addition to SCID, there are many other IEI that could benefit from early diagnosis and intervention by preventing severe infections, immune dysregulation, and autoimmunity, if a suitable NBS test was available. Advances in technologies such as KREC analysis, epigenetic immune cell counting, protein profiling, and genomic techniques such as next-generation sequencing (NGS) and whole-genome sequencing (WGS) could allow early detection of various IEI shortly after birth. In the next years, the role of these technical advances as well as ethical, social, and legal implications, logistics and cost will have to be carefully examined before different IEI can be considered as suitable candidates for inclusion in NBS programs. |
first_indexed | 2024-03-10T03:53:43Z |
format | Article |
id | doaj.art-794faf1d432e4bc4a280e08927db2b34 |
institution | Directory Open Access Journal |
issn | 2409-515X |
language | English |
last_indexed | 2024-03-10T03:53:43Z |
publishDate | 2021-11-01 |
publisher | MDPI AG |
record_format | Article |
series | International Journal of Neonatal Screening |
spelling | doaj.art-794faf1d432e4bc4a280e08927db2b342023-11-23T08:50:07ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2021-11-01747410.3390/ijns7040074Future Perspectives of Newborn Screening for Inborn Errors of ImmunityMaartje Blom0Robbert G. M. Bredius1Mirjam van der Burg2Laboratory for Pediatric Immunology, Department of Pediatrics, Willem-Alexander Children’s Hospital, Leiden University Medical Center, 2300 RC Leiden, The NetherlandsDepartment of Pediatrics, Willem-Alexander Children’s Hospital, Leiden University Medical Center, 2300 RC Leiden, The NetherlandsLaboratory for Pediatric Immunology, Department of Pediatrics, Willem-Alexander Children’s Hospital, Leiden University Medical Center, 2300 RC Leiden, The NetherlandsNewborn screening (NBS) programs continue to expand due to innovations in both test methods and treatment options. Since the introduction of the T-cell receptor excision circle (TREC) assay 15 years ago, many countries have adopted screening for severe combined immunodeficiency (SCID) in their NBS program. SCID became the first inborn error of immunity (IEI) in population-based screening and at the same time the TREC assay became the first high-throughput DNA-based test in NBS laboratories. In addition to SCID, there are many other IEI that could benefit from early diagnosis and intervention by preventing severe infections, immune dysregulation, and autoimmunity, if a suitable NBS test was available. Advances in technologies such as KREC analysis, epigenetic immune cell counting, protein profiling, and genomic techniques such as next-generation sequencing (NGS) and whole-genome sequencing (WGS) could allow early detection of various IEI shortly after birth. In the next years, the role of these technical advances as well as ethical, social, and legal implications, logistics and cost will have to be carefully examined before different IEI can be considered as suitable candidates for inclusion in NBS programs.https://www.mdpi.com/2409-515X/7/4/74newborn screeninginborn errors of immunitysevere combined immunodeficiencyTRECKRECepigenetic immune cell counting |
spellingShingle | Maartje Blom Robbert G. M. Bredius Mirjam van der Burg Future Perspectives of Newborn Screening for Inborn Errors of Immunity International Journal of Neonatal Screening newborn screening inborn errors of immunity severe combined immunodeficiency TREC KREC epigenetic immune cell counting |
title | Future Perspectives of Newborn Screening for Inborn Errors of Immunity |
title_full | Future Perspectives of Newborn Screening for Inborn Errors of Immunity |
title_fullStr | Future Perspectives of Newborn Screening for Inborn Errors of Immunity |
title_full_unstemmed | Future Perspectives of Newborn Screening for Inborn Errors of Immunity |
title_short | Future Perspectives of Newborn Screening for Inborn Errors of Immunity |
title_sort | future perspectives of newborn screening for inborn errors of immunity |
topic | newborn screening inborn errors of immunity severe combined immunodeficiency TREC KREC epigenetic immune cell counting |
url | https://www.mdpi.com/2409-515X/7/4/74 |
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