Evidence map›Paper›PMID 39233474›Full record

ArticleBritish journal of haematology2024

Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy.

Sophie de Tocqueville, Emmanuel Martin, Quentin Riller, Laëtitia Kermasson, Benoit France, Aude Magérus, Frédéric Rieux-Laucat, François Delhommeau, Pierre Hirsch, Aurore Touzart and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in British journal of haematology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. 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

14 authors.

Sophie de TocquevilleLaboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Emmanuel MartinImagine Institute, Université Paris Cité, Université Paris Saclay, Paris, France.
Quentin RillerLaboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015, Institut Imagine, Université Paris Cité, Paris, France.
Laëtitia KermassonLaboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Benoit FranceLaboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Aude MagérusLaboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015, Institut Imagine, Université Paris Cité, Paris, France.
Frédéric Rieux-LaucatLaboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015, Institut Imagine, Université Paris Cité, Paris, France.
François DelhommeauService d'Hématologie Biologique, Centre de Recherche Saint-Antoine, CRSA, AP-HP, SIRIC CURAMUS, INSERM, Hôpital Saint-Antoine, Sorbonne Université, Paris, France.
Pierre HirschService d'Hématologie Biologique, Centre de Recherche Saint-Antoine, CRSA, AP-HP, SIRIC CURAMUS, INSERM, Hôpital Saint-Antoine, Sorbonne Université, Paris, France.
Aurore TouzartLaboratory of Onco-Hematology, Hôpital Necker Enfants-Malades, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
Aude EchalierLeicester Institute of Structural and Chemical Biology, and Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.
Alain FischerDepartment of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
Despina MoshousLaboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Patrick RevyLaboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.ORCID https://orcid.org/0000-0003-0758-8022

Funding

Agence National de la Recherche ANR-18-CE17-0001Agence National de la Recherche ANR-22-CE15-0047-02Agence Nationale de la Recherche ANR-10-IAHU-01Agence Nationale de la Recherche ANR-18-RHUS-0010Fondation pour la recherche Médicale (FRM) EQU202103012670Institut national de la santé et de la recherche médicale (INSERM); Ligue Nationale contre le CancerInstitut national du Cancer (INCa)
6 · The paper itself

Abstract

MYSM1 deficiency causes inherited bone marrow failure syndrome (IBMFS). We have previously identified an IBMFS patient with a homozygous pathogenic variant in MYSM1 who recovered from cytopenia due to spontaneous correction of one MYSM1 variant in the haematopoietic compartment, an event called somatic genetic rescue (SGR). The study of the genetic and biological aspects of the patient's haematopoietic/lymphopoietic system over a decade after SGR shows that one genetically corrected haematopoietic stem cell (HSC) can restore a healthy and stable haematopoietic system. This supports in vivo gene correction of HSCs as a promising treatment for IBMFS, including MYSM1 deficiency.

Indexed as

Bone Marrow Failure DisordersGenetic TherapyFemaleHematopoietic Stem CellsHematopoietic Stem Cell TransplantationHumansMalebone marrow failurehaematopoiesisMYSM1natural gene therapysomatic genetic rescue

Identifiers

PMID39233474
PMCPMC11637720

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.