Evidence map›Paper›PMID 42376186›Full record

ArticleClinical & translational immunology2026

Early brain-penetrant immunotherapy reverses interferon signature and improves motor outcome in a case of ADAR1-related Aicardi-Goutières syndrome.

Russell C Dale, Jessica Hayes, Velda X Han, Ruwani Dissanayake, Xianzhong Lau, Michelle Farrar, Brian Gloss, Markus Hofer, Esther Tantsis, Michelle Lorentzos and 4 more

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In one paragraph

Article in Clinical & translational immunology, 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
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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

14 authors.

Russell C DaleKids Neuroscience Centre, Faculty of Medicine and Health, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.ORCID https://orcid.org/0000-0002-2495-1826
Jessica HayesKids Neuroscience Centre, Faculty of Medicine and Health, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.
Velda X HanKhoo Teck Puat-National University Children's Medical Institute National University Health System Singapore Singapore.
Ruwani DissanayakeAustralian Genome Research Facility Ltd Westmead NSW Australia.
Xianzhong LauAustralian Genome Research Facility Ltd Melbourne VIC Australia.
Michelle FarrarDepartment of Neurology The Sydney Children's Hospitals Network Sydney NSW Australia.
Brian GlossWestmead Research Hub Westmead Institute for Medical Research Westmead NSW Australia.
Markus HoferSchool of Life and Environmental Sciences, Faculty of Science The University of Sydney Sydney NSW Australia.ORCID https://orcid.org/0000-0001-5111-3978
Esther TantsisKids Neuroscience Centre, Faculty of Medicine and Health, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.
Michelle LorentzosKids Neuroscience Centre, Faculty of Medicine and Health, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.ORCID https://orcid.org/0009-0005-9608-6535
Safiyyah AbbasKids Neuroscience Centre, Faculty of Medicine and Health, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.
Yanick J CrowMRC Human Genetics Unit, Institute of Genetics and Cancer University of Edinburgh Edinburgh UK.
Shekeeb MohammadKids Neuroscience Centre, Faculty of Medicine and Health, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.ORCID https://orcid.org/0000-0003-1219-4781
Shrujna PatelKids Neuroscience Centre, Faculty of Medicine and Health, The Children's Hospital at Westmead University of Sydney Sydney NSW Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy resulting from defects in nucleic acid metabolism and subsequent enhanced type I interferon signalling. We report how an expedited genomic diagnosis in conjunction with natural history data can enable a long-term brain-penetrant anti-inflammatory regimen to optimise neurodevelopmental outcomes in genetic autoinflammatory brain disorders. Methods: Expedited genomic testing identified compound heterozygous Results: At the age of 24 months, the patient was crawling and walking a few steps unaided, with a GMFCS level of II. Single-cell RNA sequencing of 41 164 leukocytes, taken before and after 3 months of treatment and compared to three age matched male controls, showed a reversal of upregulated pan-cellular interferon pathways, with most differentially expressed genes observed in monocytes. On treatment, there was statistically significant downregulation of key autoinflammatory genes, including nucleic acid sensing ( Conclusion: Compared with natural history data, our data suggest that early diagnosis, and the use of early brain-penetrant immune suppressants (dexamethasone), may improve outcomes in

Indexed as

Aicardi‐Goutières syndrome (AGS)corticosteroidimmune therapyinterferonopathytranscriptomics

Identifiers

PMID42376186
PMCPMC13310790

What Socratic holds

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LicenceCC BY
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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 Socratic graph.