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...

Full description

Bibliographic Details
Main Authors: Maartje Blom, Robbert G. M. Bredius, Mirjam van der Burg
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Neonatal Screening
Subjects:
Online Access:https://www.mdpi.com/2409-515X/7/4/74
_version_ 1797503648894287872
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
work_keys_str_mv AT maartjeblom futureperspectivesofnewbornscreeningforinbornerrorsofimmunity
AT robbertgmbredius futureperspectivesofnewbornscreeningforinbornerrorsofimmunity
AT mirjamvanderburg futureperspectivesofnewbornscreeningforinbornerrorsofimmunity