Evidence map›Paper›PMID 42742462›Full record

ArticleJournal of human immunity2026

A possible founder IRAK4 variant in Okinawa, Japan.

Dan Tomomasa, Tomoko Uehara, Tomotada Takayama, Madoka Nishimura, Ryosuke Wakatsuki, Xi Yang, Satoshi Okada, Akihiro Fujimoto, Hirokazu Kanegane

Abstract read
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.

Dan TomomasaDepartment of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.ORCID 0009-0003-3236-5098
Tomoko UeharaDepartment of Pediatrics, Naha City Hospital, Okinawa, Japan.ORCID 0009-0002-2616-6116
Tomotada TakayamaGeneral Pediatrics, Okinawa Prefectural Nanbu Medical Center & Children's Medical Center, Okinawa, Japan.ORCID 0009-0005-9546-6421
Madoka NishimuraDepartment of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.ORCID 0009-0007-6030-8567
Ryosuke WakatsukiDepartment of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.ORCID 0009-0000-3619-0895
Xi YangMinistry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, National Clinical Research Center for Child Health and Disorders, Chongqing, China.ORCID 0000-0003-2054-8711
Satoshi OkadaDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.ORCID 0000-0002-4622-5657
Akihiro FujimotoDepartment of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID 0000-0002-0075-0800
Hirokazu KaneganeDepartment of Child Health and Development, Institute of Science Tokyo, Tokyo, Japan.ORCID 0000-0002-8696-9378

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A cluster of cases of IRAK4 deficiency has been identified in Okinawa Prefecture, Japan. All affected families carry the homozygous c.123_124insA variant, suggesting a founder effect and supporting the implementation of targeted newborn screening of IRAK4 deficiency in Okinawa.

Identifiers

PMID42742462
PMCPMC13576643

What OpenQuestion holds

Textmetadata
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.