Evidence map›Paper›PMID 38800615›Full record

ArticleThe journal of allergy and clinical immunology. Global2024

Utilization of next-generation sequencing to define the role of heterozygous

Yehonatan Pasternak, Linda Vong, Daniele Merico, Laura Abrego Fuentes, Ori Scott, Marina Sham, Meghan Fraser, Abby Watts-Dickens, Jessica Willett Pachul, Vy H D Kim and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The journal of allergy and clinical immunology. Global, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Informed clinical decisions by outfoxing human FOXN1 variants.The Journal of allergy and clinical immunology · 2025
    Review
  3. 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

13 authors.

Yehonatan PasternakDivision of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Linda VongDivision of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Daniele MericoVevo Therapeutics, San Francisco, Calif.
Laura Abrego FuentesDivision of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Ori ScottDivision of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Marina ShamDivision of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Meghan FraserNewborn Screening Program, Department of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Abby Watts-DickensNewborn Screening Program, Department of Clinical and Metabolic Genetics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Jessica Willett PachulDivision of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Vy H D KimDivision of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Christian R MarshallDivision of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Stephen SchererThe Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Chaim M RoifmanDivision of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Forkhead box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T-cell differentiation, maturation, and function. Biallelic pathogenic variants in Objective: We undertook longitudinal follow-up and advanced genetic investigations, including whole exome sequencing and whole genome sequencing, of newborns with a heterozygous variant in Methods: Five patients (3 female, 2 male) have been followed since they were first detected with low T-cell receptor excision circles during newborn screening for SCID. Patients underwent immune evaluation as well as genetic testing, including a primary immunodeficiency panel, whole exome sequencing, and whole genome sequencing in some cases. Results: Median follow-up time was 6.5 years. Initial investigations revealed low CD3 Conclusion: In cases of monoallelic

Indexed as

FOXN1newborn screeningSevere combined immunodeficiencyT-cell receptor excision circlesthymuswhole exome sequencingwhole genome sequencing

Identifiers

PMID38800615
PMCPMC11127205

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.