Evidence map›Paper›PMID 42577878›Full record

ArticleJournal of human immunity2026

Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features.

Hiroyuki Baba, Tadashi Hosoya, Taiki Yamaguchi, Takuji Itakura, Hirokazu Sasaki, Natsuka Umezawa, Tetsuya Saito, Naoki Kimura, Ryuji Koike, Masayuki Yoshida and 3 more

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

13 authors.

Hiroyuki BabaDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0003-4369-2433
Tadashi HosoyaDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0001-5177-6413
Taiki YamaguchiDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0009-0005-7438-7804
Takuji ItakuraDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0003-4939-0823
Hirokazu SasakiDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0009-0005-2178-6457
Natsuka UmezawaDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0001-6878-1884
Tetsuya SaitoDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0009-0003-7241-6662
Naoki KimuraDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-6419-0443
Ryuji KoikeDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0001-5647-8159
Masayuki YoshidaDepartment of Medical Genetics, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-4600-4504
Masaki ShimizuDepartment of Pediatrics, Neonatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0003-1077-7772
Hirokazu KaneganeDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-8696-9378
Shinsuke YasudaDepartment of Rheumatology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0001-6171-2077

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multidisciplinary genomic evaluation is increasingly recognized for its diagnostic and therapeutic implications in adults with suspected inborn errors of immunity (IEI) presenting with rheumatic and musculoskeletal disease (RMD) phenotypes. We retrospectively analyzed 50 adults with suspected IEI who underwent genetic testing and were pre-classified into immunodeficiency (ID), autoinflammatory disorders (AID), and non-ID/AID groups. Genetic findings, clinical classification, treatment modifications, and exploratory machine learning analyses were evaluated. A final genetic diagnosis consistent with IEI was identified in 15 patients (30.0%), with the highest yield in the non-ID/AID group (44.4%). Variants were most frequently associated with autoinflammatory diseases (40.0%). Four patients, all initially classified as non-ID/AID, were reclassified based on genetic findings and IUIS classification. Treatment was modified in 12 patients, including eight genetically diagnosed patients and three genotype-driven interventions. Two patients died from disease-related complications. Machine learning analyses provided heterogeneous feature contributions across groups. These findings highlight the utility of multidisciplinary genomic evaluation for refining diagnoses in challenging adult patients.

Identifiers

PMID42577878
PMCPMC13455650

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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.