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

MYSM1 bone marrow failure haematopoiesis natural gene therapy somatic genetic rescue

Journal

British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544

Informations de publication

Date de publication:
04 Sep 2024
Historique:
received: 18 07 2024
accepted: 22 08 2024
medline: 5 9 2024
pubmed: 5 9 2024
entrez: 5 9 2024
Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1111/bjh.19744 PMID: 39233474
pubmed: 39233474
doi: 10.1111/bjh.19744
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Institut national de la santé et de la recherche médicale (INSERM); Ligue Nationale contre le Cancer
Organisme : Institut national du Cancer (INCa)
Organisme : Agence National de la Recherche
ID : ANR-18-CE17-0001
Organisme : Agence National de la Recherche
ID : ANR-22-CE15-0047-02
Organisme : Fondation pour la recherche Médicale (FRM)
ID : EQU202103012670
Organisme : Agence Nationale de la Recherche
ID : ANR-10-IAHU-01
Organisme : Agence Nationale de la Recherche
ID : ANR-18-RHUS-0010

Informations de copyright

© 2024 The Author(s). British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.

Références

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Auteurs

Sophie de Tocqueville (S)

Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Imagine Institute, Université Paris Cité, Université Paris Saclay, Paris, France.

Emmanuel Martin (E)

Imagine Institute, Université Paris Cité, Université Paris Saclay, Paris, France.
Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Paris, France.

Quentin Riller (Q)

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015, Institut Imagine, Université Paris Cité, Paris, France.

Laëtitia Kermasson (L)

Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Imagine Institute, Université Paris Cité, Université Paris Saclay, Paris, France.

Benoit France (B)

Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Imagine Institute, Université Paris Cité, Université Paris Saclay, Paris, France.

Aude Magérus (A)

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015, Institut Imagine, Université Paris Cité, Paris, France.

Frédéric Rieux-Laucat (F)

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015, Institut Imagine, Université Paris Cité, Paris, France.

François Delhommeau (F)

Service d'Hématologie Biologique, Centre de Recherche Saint-Antoine, CRSA, AP-HP, SIRIC CURAMUS, INSERM, Hôpital Saint-Antoine, Sorbonne Université, Paris, France.

Pierre Hirsch (P)

Service d'Hématologie Biologique, Centre de Recherche Saint-Antoine, CRSA, AP-HP, SIRIC CURAMUS, INSERM, Hôpital Saint-Antoine, Sorbonne Université, Paris, France.

Aurore Touzart (A)

Laboratory of Onco-Hematology, Hôpital Necker Enfants-Malades, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
INSERM U1151, Institut Necker Enfants Malades (INEM), Paris, France.

Aude Echalier (A)

Leicester Institute of Structural and Chemical Biology, and Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.

Alain Fischer (A)

Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
Imagine Institute, INSERM UMR 1163, Paris, France.

Despina Moshous (D)

Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Imagine Institute, Université Paris Cité, Université Paris Saclay, Paris, France.
Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.

Patrick Revy (P)

Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue 2023, INSERM UMR 1163, Imagine Institute, Paris, France.
Imagine Institute, Université Paris Cité, Université Paris Saclay, Paris, France.
ORCID: 0000-0003-0758-8022

Classifications MeSH