Evidence map›Paper›PMID 41234702›Full record

ArticleGastro hep advances2026

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway.

Léa-Philippine Gaigne, Caroline Besnard, Orianne Debeaupuis, Artem Degtiar, Duong Ho Nhat, Marie-Claude Stolzenberg, Fatou Camara, Olivier Pellé, Adrien Schvartz, Mélodie Perin and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Gastro hep advances, 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

22 authors.

Léa-Philippine GaigneUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Caroline BesnardUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Orianne DebeaupuisUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Artem DegtiarUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Duong Ho NhatUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Marie-Claude StolzenbergUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Fatou CamaraGenomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Cite University, Paris, France.
Olivier PelléUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Adrien SchvartzUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Mélodie PerinBioinformatics Core Facility, Paris-Cité University-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.
Marion AlmesPediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.
Amaria Darmellah-RemilPediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.
Emmanuel GonzalesPediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.
Antoine GardinPediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.
Dalila HabesPediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.
Sylvie DestombeFaculté de médecine Jacques-Lisfranc, Saint-Étienne, France.
Eleonora De MartinAPHP, Centre Hépato-Biliaire, Paul Brousse Hospital, INSERM UMR 1193, Univ Paris-Saclay, ERN RARE LIVER, Villejuif, France.
Jean-Charles Duclos-ValléeAPHP, Centre Hépato-Biliaire, Paul Brousse Hospital, INSERM UMR 1193, Univ Paris-Saclay, ERN RARE LIVER, Villejuif, France.
Peter D ArkwrightLydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, UK.
Frédéric Rieux-LaucatUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.
Emmanuel JacqueminPediatric Hepatology and Liver Transplantation Unit, National Reference Centre for inflammatory biliary diseases and autoimmune hepatitis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.
Aude MagerusUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Aims: Autoimmune hepatitis (AIH), a severe immune-mediated liver disease resulting from defective immune tolerance, was thought to be caused by monogenic predisposition with possible external triggers. The development of AIH in monogenic primary immune deficiencies prompted us to search for causative genetic defects in AIH. Methods: Twenty-two children with AIH were included for whole exome sequencing analysis. Data were analyzed with an in-house software, combined with in silico tools and confirmed by Sanger sequencing. Mechanistic target of rapamycin (mTOR) pathway activation was assessed by phosphoS6-RP expression by fluorescence activated cells sorting. Results: In six children with type 1 or type 2 AIH, seven rare missense candidate variants with damaging predictive scores were identified in five genes involved in the regulation of the mTOR complex 1 (mTORC1) signaling pathway ( Conclusion: These data showed that pediatric patients with AIH-1 or AIH-2, especially when burdened with poly-autoimmunity, may carry mutations in key partners of the mTORC1 signaling pathway. Moreover, even without identified genetic defect, we observed a deregulation of the mTOR pathway in five out of six tested patients. These results shed new light on the pathogenesis of AIH. Moreover, they suggested that the patients could benefit from specific targeted agents such as mTOR inhibitors.

Indexed as

Autoimmune HepatitisGenetics Pediatric Auto-Immunity RapamycinmTOR Pathway

Identifiers

PMID41234702
PMCPMC12605072

What Socratic holds

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LicenceCC BY-NC-ND
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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.