Evidence map›Paper›PMID 42169759›Full record

ArticleJournal of human immunity2025

X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening.

Yusuke Imanaka, Takaki Asano, Kosuke Noma, Fumiaki Sakura, Norifumi Nishioka, Yoko Mizoguchi, Takahiro Kamiya, Hirokazu Kanegane, Satoshi Okada

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of human immunity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

9 authors.

Yusuke Imanaka *Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Science, Hiroshima, Japan.ORCID https://orcid.org/0000-0002-7261-7080
Takaki Asano *Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Science, Hiroshima, Japan.ORCID https://orcid.org/0000-0003-1424-2433
Kosuke NomaDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Science, Hiroshima, Japan.ORCID https://orcid.org/0009-0009-9415-9744
Fumiaki SakuraDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Science, Hiroshima, Japan.ORCID https://orcid.org/0009-0000-8672-8868
Norifumi NishiokaDepartment of Pediatrics, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan.ORCID https://orcid.org/0009-0001-2931-7752
Yoko MizoguchiDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Science, Hiroshima, Japan.ORCID https://orcid.org/0000-0003-3686-9915
Takahiro KamiyaDepartment of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-8124-6234
Hirokazu KaneganeDepartment of Child Health and Development, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-8696-9378
Satoshi OkadaDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Science, Hiroshima, Japan.ORCID https://orcid.org/0000-0002-4622-5657

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Suspected false positivity in newborn screening delayed diagnosis of X-linked severe combined immunodeficiency in an infant with trisomy 21, underscoring the diagnostic challenges of coexisting genetic conditions and the need for timely immunological evaluation and intervention to prevent life-threatening infections.

Identifiers

PMID42169759
PMCPMC13177814

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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.