Evidence map›Paper›PMID 40881691›Full record

ArticleFrontiers in immunology2025

A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.

Karen Helene Bronken Martinsen, Torstein Øverland, Asbjørg Stray-Pedersen, Tore G Abrahamsen, Børre Fevang, Hans Christian Erichsen Landsverk

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 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. Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026
    Review
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

6 authors.

Karen Helene Bronken MartinsenDivision of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Torstein ØverlandDivision of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Asbjørg Stray-PedersenNorwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Tore G AbrahamsenInstitute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Børre FevangInstitute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Hans Christian Erichsen LandsverkDivision of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Inborn errors of immunity (IEIs) caused by mutations in Methods: This is a descriptive epidemiological study. Results: We present 23 patients with heterozygous Conclusion: We report novel clinical manifestations in STAT1 GOF, and suggest that heterozygous STAT1 LOF might be a more complex condition than originally presumed.

Indexed as

MutationSTAT1 Transcription FactorAdolescentAdultCandidiasis, Chronic MucocutaneousChildChild, PreschoolCohort StudiesFemaleGenetic Predisposition to DiseaseHumansInfantMaleMiddle AgedNorwayPhenotypeSTAT1 protein, humanSTAT1 Transcription Factorautoimmune hypertriglyceridemiachronic mucocutaneous candidiasis (CMC)malignancyophthalmologicSTAT1 GOFSTAT1 LOF

Identifiers

PMID40881691
PMCPMC12381566

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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.