Evidence map›Paper›PMID 35126364›Full record

ArticleFrontiers in immunology2021

Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease.

Fabian Lötscher, Luca Seitz, Helena Simeunovic, Adela-Cristina Sarbu, Naomi A Porret, Laurence Feldmeyer, Luca Borradori, Nicolas Bonadies, Britta Maurer

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 2 pooled it
6.6field-weighted citation impact, top 3% 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

21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.

  1. The role ofInternal and emergency medicine · 2024
    Pooled it
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  8. Article
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  13. Recurrent superior orbital fissure syndrome associated with VEXAS syndrome.Journal of ophthalmic inflammation and infection · 2023
    Article
  14. VEXAS Syndrome-Review.Global medical genetics · 2023
    Review
  15. JAK inhibitors for the treatment of VEXAS syndrome.Experimental biology and medicine (Maywood, N.J.) · 2023
    Review
  16. The First Korean Case of VEXAS Syndrome Caused by aAnnals of laboratory medicine · 2023
    Article
  17. Review
  18. Article
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  20. Observational
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

9 authors at 2 institutions in 1 country.

Fabian LötscherDepartment of Rheumatology and Immunology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Luca SeitzDepartment of Rheumatology and Immunology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Helena SimeunovicDepartment of Hematology and Central Hematology Laboratory, Inselspital Bern, University of Bern, Bern, Switzerland.
Adela-Cristina SarbuDepartment of Rheumatology and Immunology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Naomi A PorretDepartment of Hematology and Central Hematology Laboratory, Inselspital Bern, University of Bern, Bern, Switzerland.
Laurence FeldmeyerDepartment of Dermatology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Luca BorradoriDepartment of Dermatology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Nicolas BonadiesDepartment of Hematology and Central Hematology Laboratory, Inselspital Bern, University of Bern, Bern, Switzerland.
Britta MaurerDepartment of Rheumatology and Immunology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
University Hospital of Bern · CHUniversity of Bern · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Somatic genetic mutations involving the innate and inflammasome signaling are key drivers of the pathogenesis of myelodysplastic syndromes (MDS). Herein, we present a patient, who suffered from a long-standing refractory adult-onset autoinflammatory syndrome (AIS), previously interpreted as various distinct rheumatic disorders. Developing pancytopenia and particularly macrocytic anemia prompted the screening for a hematological malignancy, which led to the diagnosis of a

Indexed as

MutationAdrenal Cortex HormonesAgedDioxygenasesDNA-Binding ProteinsHereditary Autoinflammatory DiseasesHumansMaleMyelodysplastic SyndromesUbiquitin-Activating EnzymesAdrenal Cortex HormonesDioxygenasesDNA-Binding ProteinsTET2 protein, humanUBA1 protein, humanUbiquitin-Activating EnzymesautoinflammationMDSTET2vasculitisVEXAS syndrome

Identifiers

PMID35126364
PMCPMC8811255
OpenAlexW4206387595

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.