Evidence map›Paper›PMID 42170593›Full record

ArticleJournal of human immunity2026

Early identification of delayed-onset ADA deficiency: The case for expanded first-tier newborn screening.

Kristine Jeganathan, Adam Byrne, Gabrielle White, Eyal Grunebaum, Elie Haddad, Michael S Hershfield, Teresa K Tarrant, Matthew P A Henderson, Anne Pham-Huy

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Kristine JeganathanDepartment of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.ORCID https://orcid.org/0009-0008-1815-1524
Adam ByrneDivision of Allergy, Immunology and Infectious Diseases, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.ORCID https://orcid.org/0009-0009-8368-1289
Gabrielle WhiteDivision of Allergy, Immunology and Infectious Diseases, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.ORCID https://orcid.org/0009-0001-1941-4751
Eyal GrunebaumDivision of Immunology and Allergy, The Hospital for Sick Children, Toronto, Canada.ORCID https://orcid.org/0000-0002-2586-6391
Elie HaddadDepartment of Pediatrics, Department of Microbiology, Immunology and Infectious Diseases, CHU Sainte-Justine Azrieli Research Center, University of Montreal, CHU Sainte-Justine, Montreal, Canada.ORCID https://orcid.org/0000-0003-2446-6879
Michael S HershfieldDepartment of Medicine, Division of Rheumatology and Immunology, Duke University School of Medicine, Durham, NC, USA.ORCID https://orcid.org/0000-0003-3589-8554
Teresa K TarrantDepartment of Medicine, Division of Rheumatology and Immunology, Duke University School of Medicine, Durham, NC, USA.ORCID https://orcid.org/0000-0003-4067-5363
Matthew P A HendersonNewborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.ORCID https://orcid.org/0000-0002-8404-8559
Anne Pham-HuyDivision of Allergy, Immunology and Infectious Diseases, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.ORCID https://orcid.org/0000-0001-5728-3134

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Delayed-onset ADA deficiency was identified in two patients who were not detected by standard newborn screening for SCID. These findings support expanding first-tier newborn screening to include purine profiling alongside TREC assays, ensuring early diagnosis and enabling curative treatment before irreversible end-organ damage develops.

Identifiers

PMID42170593
PMCPMC13177593

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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.