Evidence map›Paper›PMID 37342083›Full record

ArticleeLife2023

A critical region of A20 unveiled by missense

Elma El Khouri, Farah Diab, Camille Louvrier, Eman Assrawi, Aphrodite Daskalopoulou, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin and 5 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
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

10 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. How I Treat: Haploinsufficiency of A20.Journal of human immunity · 2026
    Review
  3. Review
  4. 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
  5. Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. 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

15 authors at 4 institutions in 1 country.

Elma El KhouriSorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Maladies génétiques d'expression pédiatrique", Paris, France.
Farah DiabSorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Maladies génétiques d'expression pédiatrique", Paris, France.
Camille LouvrierSorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Maladies génétiques d'expression pédiatrique", Paris, France.
Eman AssrawiSorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Maladies génétiques d'expression pédiatrique", Paris, France.
Aphrodite DaskalopoulouSorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Maladies génétiques d'expression pédiatrique", Paris, France.
Alexandre NguyenDépartement de Médecine Interne et Immunologie Clinique, Normandie Univ, UNICAEN, UR4650 PSIR, CHU de Caen Normandie, Caen, France.
William PiterbothDépartement de Génétique Médicale, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.
Samuel DeshayesDépartement de Médecine Interne et Immunologie Clinique, Normandie Univ, UNICAEN, UR4650 PSIR, CHU de Caen Normandie, Caen, France.
Alexandra DesdoitsService de chirurgie pédiatrique, CHU de Caen Normandie, Caen, France.
Bruno CopinDépartement de Génétique Médicale, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.
Florence Dastot Le MoalDépartement de Génétique Médicale, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.
Sonia Athina KarabinaSorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Maladies génétiques d'expression pédiatrique", Paris, France.
Serge AmselemSorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Maladies génétiques d'expression pédiatrique", Paris, France.
Achille Aouba *Département de Médecine Interne et Immunologie Clinique, Normandie Univ, UNICAEN, UR4650 PSIR, CHU de Caen Normandie, Caen, France.
Irina Giurgea *Sorbonne Université, Institut National de la Santé et de la Recherche Médicale (INSERM), "Maladies génétiques d'expression pédiatrique", Paris, France.ORCID 0000-0002-5035-2958
Inserm · FRNormandie Université · FRSorbonne Université · FRCentre Hospitalier Universitaire de Caen Normandie · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in

Indexed as

Mutation, MissenseNF-kappa BHumansTumor Necrosis Factor alpha-Induced Protein 3NF-kappa BTNFAIP3 protein, humanTumor Necrosis Factor alpha-Induced Protein 3A20A20 haploinsufficiencygeneticsgenomicshumanimmunologyinflammationmissense variationpathogenic significanceproteasomal degradationTNFAIP3

Identifiers

PMID37342083
PMCPMC10284599
OpenAlexW4381470533

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 OpenQuestion graph.