Evidence map›Paper›PMID 41991504›Full record

ArticlePediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology2026

Functional changes in the gut microbiota are associated with the intestinal phenotype in A20 haploinsufficiency.

Inès Elhani, Marius Bredon, Diana Enea, Aurore Desmons, Lionel Arrive, Céline Bazille, Antoine Lefevre, Achille Aouba, Adrien Bigot, Claire de Moreuil and 13 more

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In one paragraph

Article in Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2026. 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. Editorial comment on "Functional changes in the gut microbiota are associated with the intestinal phenotype in A20 haploinsufficiency".Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026
    Article
  3. Functional changes in the gut microbiota are associated with the intestinal phenotype in A20 haploinsufficiency.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026
    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

23 authors.

Inès ElhaniCentre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Gastroenterology Department, Assistance publique-Hôpitaux de Paris, Saint-Antoine Hospital, Paris, France, Sorbonne Université, Paris, France.ORCID https://orcid.org/0000-0002-9767-2262
Marius BredonCentre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Gastroenterology Department, Assistance publique-Hôpitaux de Paris, Saint-Antoine Hospital, Paris, France, Sorbonne Université, Paris, France.
Diana EneaDepartment of Pathology, Saint-Antoine Hospital, AP-HP, Sorbonne University, Paris, France.
Aurore DesmonsINSERM, AP-HP, Département Metomics, Hôpital Saint Antoine, Centre de Recherche Saint-Antoine, Sorbonne Université, Paris, France.
Lionel ArriveInstitut Curie, PSL Research University, Service de radiologie, F-92210, Saint-Cloud, France, Paris, France.
Céline BazilleDepartment of Pathology, CHU of Caen Normandie, Caen, France.
Antoine LefevreR 1253, iBrain, INSERM, University of Tours, Tours, France.
Achille AoubaDepartment of Internal Medicine, Caen University Hospital, Caen, France.
Adrien BigotService de Médecine Interne CHRU de Tours, Tours, France.
Claire de MoreuilDepartment of Internal Medicine, Brest University Hospital, Brest, France.
Iria AlonsoCentre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Gastroenterology Department, Assistance publique-Hôpitaux de Paris, Saint-Antoine Hospital, Paris, France, Sorbonne Université, Paris, France.
Hélène BlascoR 1253, iBrain, INSERM, University of Tours, Tours, France.
Laura CreusotCentre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Gastroenterology Department, Assistance publique-Hôpitaux de Paris, Saint-Antoine Hospital, Paris, France, Sorbonne Université, Paris, France.
Camille DupuyR 1253, iBrain, INSERM, University of Tours, Tours, France.
Patrick EmondR 1253, iBrain, INSERM, University of Tours, Tours, France.
Pranvera KrasniqiINSERM, AP-HP, Département Metomics, Hôpital Saint Antoine, Centre de Recherche Saint-Antoine, Sorbonne Université, Paris, France.
Antonin LamaziereINSERM, AP-HP, Département Metomics, Hôpital Saint Antoine, Centre de Recherche Saint-Antoine, Sorbonne Université, Paris, France.
Cyriane OeuvrayCentre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Gastroenterology Department, Assistance publique-Hôpitaux de Paris, Saint-Antoine Hospital, Paris, France, Sorbonne Université, Paris, France.
Dominique RainteauINSERM, AP-HP, Département Metomics, Hôpital Saint Antoine, Centre de Recherche Saint-Antoine, Sorbonne Université, Paris, France.
Magali SvrcekDepartment of Pathology, Saint-Antoine Hospital, AP-HP, Sorbonne University, Paris, France.
Nathalie RolhionCentre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Gastroenterology Department, Assistance publique-Hôpitaux de Paris, Saint-Antoine Hospital, Paris, France, Sorbonne Université, Paris, France.
Harry SokolCentre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Gastroenterology Department, Assistance publique-Hôpitaux de Paris, Saint-Antoine Hospital, Paris, France, Sorbonne Université, Paris, France.
Sophie Georgin-LavialleCentre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Gastroenterology Department, Assistance publique-Hôpitaux de Paris, Saint-Antoine Hospital, Paris, France, Sorbonne Université, Paris, France.

Funding

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6 · The paper itself

Abstract

backgroundA20 haploinsufficiency (HA20) is an autoinflammatory disease driven by pathogenic variants in TNFAIP3, which plays a crucial role in regulating immune responses. The clinical manifestations of HA20 resemble those of inflammatory bowel disease (IBD), with prominent gastrointestinal (GI) involvement. Given the well-established association between gut microbiota alterations and IBD, this study aimed to describe the GI involvement of HA20 patients and to investigate their fecal microbiota using shotgun sequencing and metabolomics.

methodsThis study included 16 HA20 patients and 22 healthy age and sex-matched controls. GI clinical phenotype, liver imaging, and liver and GI tissue histology were assessed. Shotgun metagenomic sequencing was performed on fecal DNA. Fecal metabolomic profiling of bile acids, short-chain fatty acids (SCFAs), and tryptophan metabolites was performed.

resultsLiver imaging revealed chronic liver disease in 3/5 patients, showing as liver dysmorphia and portal hypertension. Histological analysis showed lymphoplasmocytic infiltrate of the GI tract and the liver. The fecal microbiota of HA20 patients was characterized by marked alterations, including a reduction in microbial diversity and an increase in the pro-inflammatory bacterium Ruminococcus gnavus. Microbial bile acid deconjugation and desulfation were impaired. Additionally, tryptophan metabolism was altered, with a shift towards the kynurenine pathway.

conclusionOur results show that HA20 is associated with gut microbiota alterations and significant disruptions in metabolic pathways, particularly involving bile acids. These alterations could contribute to the chronic inflammation observed in HA20. These findings highlight the role of the gut-liver axis and of mucosal barrier dysfunction in HA20.

Indexed as

Autoimmune DiseasesGastrointestinal MicrobiomeInflammatory Bowel DiseasesIntestinesTumor Necrosis Factor alpha-Induced Protein 3AdolescentChildChild, PreschoolEubacterialesFecesFemaleHaploinsufficiencyHumansLiverLiver DiseasesMaleTNFAIP3 protein, humanTumor Necrosis Factor alpha-Induced Protein 3A20 haploinsufficiencyinflammatory bowel diseasemicrobiota

Identifiers

PMID41991504
PMCPMC13086603

What Socratic holds

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LicenceCC BY
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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 Socratic graph.