Evidence map›Paper›PMID 39062699›Full record

ArticleGenes2024

A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.

Abdulrahman Al Ghamdi, Jessica Willett Pachul, Azhar Al Shaqaq, Meghan Fraser, Abby Watts-Dickens, Nicole Yang, Linda Vong, Vy H D Kim, Victoria Mok Siu, Anne Pham-Huy and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. 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.

Abdulrahman Al GhamdiDivision of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.ORCID 0009-0003-1582-7203
Jessica Willett PachulDivision of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.
Azhar Al ShaqaqDivision of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.
Meghan FraserNewborn Screening Program, Department of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.
Abby Watts-DickensNewborn Screening Program, Department of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.
Nicole YangNewborn Screening Program, Department of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.
Linda VongDivision of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.
Vy H D KimDivision of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.
Victoria Mok SiuDivision of Medical Genetics, Department of Pediatrics, London Health Sciences Centre, Western University, London, ON N6A 5A5, Canada.ORCID 0000-0003-0151-8111
Anne Pham-HuyDivision of Infectious Diseases, Immunology and Allergy, Children's Hospital of Eastern Ontario, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Rae BragerDivision of Rheumatology, Immunology, and Allergy, Department of Paediatrics, McMaster Children's Hospital, McMaster University, Hamilton, ON L8S 4L8, Canada.ORCID 0000-0002-0038-9699
Brenda ReidDivision of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.
Chaim M RoifmanDivision of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5S 1A1, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSevere combined immunodeficiency (SCID) is a life-threatening genetic disorder caused by critical defects of the immune system. Almost all cases are lethal if not treated within the first two years of life. Early diagnosis and intervention are thus essential for improving patient outcomes. In 2013, Ontario became the first Canadian province to perform newborn screening (NBS) for SCID by T cell receptor excision circles (TRECs) analysis, a surrogate marker of thymic function and lymphocyte maturation.

methodsThis retrospective study reports on nearly 10 years of NBS for SCID at a quaternary referral centre.

resultsFrom August 2013 to April 2023, our centre's densely populated catchment area flagged 162 newborns with low TRECs levels, including 10 cases with SCID. Follow-up revealed other causes of low TRECs, including non-SCID T cell lymphopenia (secondary/reversible or idiopathic causes, and syndromic conditions) and prematurity. A small number of cases with normal repeat TRECs levels and/or T cell subsets were also flagged. Province-wide data from around this period revealed at least 24 diagnosed cases of SCID or Leaky SCID.

conclusionsThis is the first report of NBS outcomes in a Canadian province describing the causative genetic defects, and the non-SCID causes of a positive NBS for SCID.

Indexed as

Neonatal ScreeningSevere Combined ImmunodeficiencyFemaleHumansInfant, NewbornLymphopeniaMaleOntarioReceptors, Antigen, T-CellRetrospective StudiesT-LymphocytesReceptors, Antigen, T-Cellinborn errors of immunityleaky SCIDnewborn screeningPIDprimary immunodeficiencySCIDsevere combined immunodeficiencyT cell deficiencyT cell receptor excision circlesTRECs

Identifiers

PMID39062699
PMCPMC11276121

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.