Evidence map›Paper›PMID 34525209›Full record

ArticleInflammatory bowel diseases2021

Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.

Brigitte Bader-Meunier, Andreia Luís Martins, Fabienne Charbit-Henrion, Ulrich Meinzer, Alexandre Belot, Laurence Cuisset, Albert Faye, Sophie Georgin-Lavialle, Pierre Quartier, Vanessa Remy-Piccolo and 6 more

Abstract read
PubMed Publisher
In one paragraph

Article in Inflammatory bowel diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 2 pooled it
1.2field-weighted citation impact, top 21% 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, 2 syntheses or guidelines pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Translating IBD Genomics into Clinical Practice.Digestive diseases and sciences · 2026
    Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Review
  10. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 10 institutions in 2 countries.

Brigitte Bader-MeunierDepartment of Paediatric Immunology, Hematology, and Rheumatology, Groupe Hospitalier Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Centre for Rheumatic, Autoimmune and Systemic Diseases in Children, Assistance Publique-Hôpitaux de Paris, and Imagine Foundation, Paris, France.
Andreia Luís MartinsPediatric Department, Professor Doutor Fernando Fonseca Hospital, Amadora, Portugal.
Fabienne Charbit-HenrionDepartment of Pediatric Gastroenterology, Hepatology and Nutrition, Groupe Hospitalier Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Ulrich MeinzerUniversité de Paris, Paris, France.
Alexandre BelotDepartment of Pediatric Nephrology, Rheumatology and Dermatology and Reference Centre for Rheumatic, Autoimmune and Systemic Diseases in Children, Hôpital Femme Mère Enfant, Bron, Lyon,France.
Laurence CuissetDepartment of Molecular Genetics, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
Albert FayeUniversité de Paris, Paris, France.
Sophie Georgin-LavialleSorbonne University, Paris, France.
Pierre QuartierDepartment of Paediatric Immunology, Hematology, and Rheumatology, Groupe Hospitalier Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Centre for Rheumatic, Autoimmune and Systemic Diseases in Children, Assistance Publique-Hôpitaux de Paris, and Imagine Foundation, Paris, France.ORCID 0000-0002-1769-549X
Vanessa Remy-PiccoloDepartment of General Paediatrics, Hôpital Nord-Ouest, Villefranche, France.
Frank RuemmeleDepartment of Pediatric Gastroenterology, Hepatology and Nutrition, Groupe Hospitalier Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Florence UettwillerPaediatric Rheumatology Unit, Centre Hospitalier Universitaire de Clocheville, Tours, France.
Jérôme VialaUniversité de Paris, Paris, France.
Nadine Cerf BensussanUniversité de Paris, Paris, France.
Dominique BerrebiUniversité de Paris, Paris, France.
Isabelle MelkiDepartment of Paediatric Immunology, Hematology, and Rheumatology, Groupe Hospitalier Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Centre for Rheumatic, Autoimmune and Systemic Diseases in Children, Assistance Publique-Hôpitaux de Paris, and Imagine Foundation, Paris, France.ORCID 0000-0002-8057-333X
Inserm · FRUniversité Paris Cité · FRAssistance Publique – Hôpitaux de Paris · FRHôpital Necker-Enfants Malades · FRCentre Hospitalier Universitaire de Tours · FRHôpital Cochin · FRHôpital Femme Mère Enfant · FRHôpital Nord · FRHospital Prof. Dr. Fernando Fonseca · PTInstitut Pasteur · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology. Anti-interleukin-1 therapy may be efficacious in these patients with monogenic very-early-onset IBD.

Indexed as

Inflammatory Bowel DiseasesMevalonate Kinase DeficiencyHumansInterleukin-1Interleukin-1childrengeneticsmevalonate kinase deficiencyvery-early-onset inflammatory bowel disease

Identifiers

PMID34525209
OpenAlexW3200070340

What OpenQuestion holds

Textmetadata
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.