Evidence map›Paper›PMID 40061936›Full record

ArticleFrontiers in immunology2025

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.

Tamar Rubin, Stéphane Bernier, Lily Siok Hoon Lim, Michael S Salman, Edward Leung, Aziz Mhanni, Sandra Marles, Cheryl Greenberg, Anna Perez, Yichun Sun and 3 more

Abstract readCase Reports
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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. 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

13 authors.

Tamar RubinSection of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
Stéphane BernierIMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.
Lily Siok Hoon LimSection of Pediatric Rheumatology, Department of Pediatrics and Child Health, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
Michael S SalmanSection of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
Edward LeungSection of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
Aziz MhanniSection of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
Sandra MarlesSection of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
Cheryl GreenbergSection of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
Anna PerezIMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.
Yichun SunIMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.
Isabelle AngersIMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.
Donald C Vinh *IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.
Lucie Roussel *IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Aicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy characterized by dysregulated inflammation and tissue damage that primarily affects the central nervous system. AGS is genetically diverse, with pathogenic variants across multiple genes, including TREX1, which drives excessive type I interferon (IFN) production. Objective: This study investigated the genetic and molecular mechanisms underlying AGS in a family of two affected children, focusing on the role of Methods: Genomic sequencing data were used to identify Results: Two homozygous Conclusion: To our knowledge, our findings demonstrate, for the first time, the compound effect of two rare homozygous variants account for AGS. This also reiterates the importance of molecular and functional assessments of genomic variants identified by sequencing.

Indexed as

Autoimmune Diseases of the Nervous SystemExodeoxyribonucleasesHomozygoteMutationNervous System MalformationsPhosphoproteinsChildChild, PreschoolCyclic Guanosine Monophosphate-Adenosine Monophosphate SynthaseFemaleHumansInterferon Regulatory Factor-3Interferon Type IMaleMembrane ProteinsNucleotidyltransferasescGAS protein, humanCyclic Guanosine Monophosphate-Adenosine Monophosphate SynthaseExodeoxyribonucleasesInterferon Regulatory Factor-3Interferon Type IMembrane ProteinsNucleotidyltransferasesPhosphoproteinsSTING1 protein, humanSTING Proteinthree prime repair exonuclease 1Aicardi-Goutières syndrome (AGS)autoinflammatory disorderscGAS-STING pathwayInuit populationTREX1 genetype I interferon

Identifiers

PMID40061936
PMCPMC11885508

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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.