Evidence map›Paper›PMID 34842618›Full record

ReviewInternational journal of neonatal screening2021

Future Perspectives of Newborn Screening for Inborn Errors of Immunity.

Maartje Blom, Robbert G M Bredius, Mirjam van der Burg

Open access · goldAbstract readReview
In one paragraph

Review in International journal of neonatal screening, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.5field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 23 citations in OpenAlex.

  1. Observational
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Development of a primary care screening algorithm for the early detection of patients at risk of primary antibody deficiency.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023
    Article
  10. Case report:Frontiers in immunology · 2023
    Article
  11. The Editor's Choice for Issue 4, Volume 7.International journal of neonatal screening · 2022
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Maartje BlomLaboratory for Pediatric Immunology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.ORCID 0000-0002-2993-7847
Robbert G M BrediusDepartment of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
Mirjam van der BurgLaboratory for Pediatric Immunology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.ORCID 0000-0002-1510-3104
Leiden University Medical Center · NL

Funding

ZonMw Geef XLA geen tijd', project 427002014ZonMw SONNET study, project 54300200
6 · The paper itself

Abstract

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.

Indexed as

epigenetic immune cell countinginborn errors of immunityKRECnewborn screeningnext-generation sequencingsevere combined immunodeficiencyTREC

Identifiers

PMID34842618
PMCPMC8628921
OpenAlexW3209878521

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.