Long‐term assessment of haematological recovery following somatic genetic rescue in a MYSM1‐deficient patient: Implications for in vivo gene therapy
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.
Authors
- François Delhommeau (ORCID: https://orcid.org/0000-0002-4915-0734)
- Quentin Riller (ORCID: https://orcid.org/0000-0003-3323-0235)
- Aurore Touzart (ORCID: https://orcid.org/0000-0002-8888-2292)
- Despina Moshous (ORCID: https://orcid.org/0000-0001-6719-3693)
- Patrick Revy (ORCID: https://orcid.org/0000-0003-0758-8022)
- Benoît France (ORCID: https://orcid.org/0000-0002-3216-6115)
- Aude Magérus (ORCID: https://orcid.org/0000-0001-7365-699X)
- Emmanuel Martin (ORCID: https://orcid.org/0000-0003-4211-7373)
- Frédéric Rieux‐Laucat (ORCID: https://orcid.org/0000-0001-7858-7866)
- Aude Echalier
- Laëtitia Kermasson
- Pierre Hirsch
- Sophie de Tocqueville
- Alain Fischer
Institutions
- Hôpital Necker-Enfants Malades (FR)
- University of Leicester (GB)
- Inserm (FR)
- Université Paris Cité (FR)
- Université Paris-Saclay (FR)
- Sorbonne Université (FR)
- Institut Necker Enfants Malades (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Saint-Antoine (FR)
- Centre de Recherche Saint-Antoine (FR)
- Institute of Structural and Molecular Biology (GB)
- Institut des Maladies Génétiques Imagine (FR)
Publication Details
- Journal
- British Journal of Haematology
- Published
- 2024-09-04
- DOI
- https://doi.org/10.1111/bjh.19744
- Citations
- 5
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.20
Funders
- Agence Nationale de la Recherche
- Institut National de la Santé et de la Recherche Médicale
- Fondation pour la Recherche Médicale
- Institut National Du Cancer