Evidence map›Paper›PMID 39473130›Full record

ReviewImmunological reviews2024

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.

Markus J Hofer, Nicholson Modesti, Nicole G Coufal, Qingde Wang, Sunetra Sase, Jonathan J Miner, Adeline Vanderver, Mariko L Bennett

Abstract readReview
In one paragraph

Review in Immunological reviews, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Review
  2. Adult-onset STING-associated vasculopathy.Journal of human immunity · 2026
    Article
  3. Article
  4. Prenatal Interferon-Alpha Exposure Induces Autism-Like Neurobehavioral and Neurochemical Alterations in Male Offspring.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2026
    Article
  5. Review
  6. Article
  7. Review
  8. Review
  9. Article
  10. The relevance of RNA-DNA interactions as regulators of physiological functions.Pflugers Archiv : European journal of physiology · 2025
    Review
  11. Review
  12. Review
  13. A structural atlas of death domain fold proteins reveals their versatile roles in biology and function.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  14. 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

8 authors.

Markus J HoferCharles Perkins Centre and School of Life and Environmental Sciences, The University of Sydney, New South Wales, Australia.
Nicholson ModestiDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Nicole G CoufalDepartment of Pediatrics, University of California, San Diego, California, USA.
Qingde WangDepartment of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Sunetra SaseDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jonathan J MinerDepartment of Medicine and Microbiology, RVCL Research Center, and Colton Center for Autoimmunity, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Adeline VanderverDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Mariko L BennettDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-1642-2887

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang · 2019 to 2026
$14.3M
Clinical Outcomes in Aicardi Goutières SyndromeU01NS106845 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2019 to 2023
$7.5M
Mechanisms of STING-associated immunodeficiencyR01AI143982 · NIAID · WASHINGTON UNIVERSITY · PI Jonathan J Miner · 2019 to 2026
$4.6M
Role of TREX1 in age-related hereditary leukoencephalopathyR01NS131480 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI Jonathan J Miner · 2023 to 2026
$3.2M
Research Training Program in Disease Oriented Neuroscience (R25)R25NS065745 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI DETRE, JOHN A · 2009 to 2023
$3.0M
Unlocking microglia targeting for neurotherapeuticsDP5OD036159 · OD · CHILDREN'S HOSP OF PHILADELPHIA · PI Mariko L. Bennett · 2023 to 2026
$2.2M
Interactions Between Diverse Brain Cell Types Drive Aicardi-Goutieres NeuropathologyR01NS138537 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Mariko L. Bennett, Daniella Muallem Schwartz · 2024 to 2026
$2.0M
Microglial contribution to Down Syndrome NeuropathologyR01NS126452 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Nicole Gabriele Coufal · 2023 to 2026
$2.0M
Role of the ADAR1-mediated RNA editing ∕ RNA sensing axis in sterile inflammationR01AI139544 · NIAID · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI WANG, QINGDE · 2019 to 2023
$1.9M
Research Training Program in Disease-Oriented Neuroscience (R25)UE5NS065745 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI Geoffrey Karl Aguirre, HAN-CHIAO ISAAC CHEN · 2024 to 2026
$1.7M
Efficacy and mechanisms of anti-IFN drugs in AGS treatmentR01NS134651 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Daniella Muallem Schwartz · 2024 to 2026
$1.6M
Reverse transcriptase inhibition as a novel therapeutic approach for ADAR-1-related Aicardi Goutières SyndromeR21NS123477 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2022 to 2022
$500k
Clayco FoundationCommon Fund DP5-OD036159National Health and Medical Research Council Ideas Grant APP2001543National Institute of Allergy and Infectious Diseases AI143982National Institute of Allergy and Infectious Diseases R01AI139544NIAID NIH HHS R01 AI139544NIAID NIH HHS R01 AI143982NIH HHS DP5 OD036159NINDS NIH HHS NS065745NINDS NIH HHS NS126452NINDS NIH HHS R01 NS126452NINDS NIH HHS R01 NS131480NINDS NIH HHS R01NS131480NINDS NIH HHS R01 NS134651NINDS NIH HHS R01NS134651NINDS NIH HHS R01 NS138537NINDS NIH HHS R21 NS123477NINDS NIH HHS R21NS123477NINDS NIH HHS R25 NS065745NINDS NIH HHS U01 NS106845NINDS NIH HHS U01NS106845NINDS NIH HHS U54 NS115052NINDS NIH HHS U54NS15052NINDS NIH HHS UE5 NS065745
6 · The paper itself

Abstract

Aicardi-Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by pathogenic mutations in genes controlling cellular anti-viral responses and nucleic acid metabolism. The mutations initiate autoinflammatory processes in the brain and systemically that are triggered by chronic overproduction of type I interferon (IFN), including IFN-alpha. Emerging disease-directed therapies aim to dampen autoinflammation and block cellular responses to IFN production, creating an urgent and unmet need to understand better which cells, compartments, and mechanisms underlying disease pathogenesis. In this review, we highlight existing pre-clinical models of AGS and our current understanding of how causative genetic mutations promote disease in AGS, to promote new model development and a continued focus on improving and directing future therapies.

Indexed as

Autoimmune Diseases of the Nervous SystemMutationNervous System MalformationsAnimalsDisease Models, AnimalHumansInterferon Type ITranslational Research, BiomedicalInterferon Type IAicardi‐GoutierescytokinesinflammationinterferonopathyleukodystrophyneuroimmunologyType I interferon

Identifiers

PMID39473130
PMCPMC11672868

What OpenQuestion holds

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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.