Long‐term assessment of haematological recovery following somatic genetic rescue in a MYSM1‐deficient patient: Implications for in vivo gene therapy
Year: 2024
Type: article
Study design: Case Report
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.
Source: British Journal of Haematology
DOI: 10.1111/bjh.19744
Institutions: Inserm, Université Paris Cité, Université Paris-Saclay, Institut des Maladies Génétiques Imagine, Sorbonne Université, Hôpital Saint-Antoine, Centre de Recherche Saint-Antoine, Hôpital Necker-Enfants Malades, Institut Necker Enfants Malades, Assistance Publique – Hôpitaux de Paris, University of Leicester
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,940
Awards: Deciphering tolerance breakdown in Immune ThrombocytoPenia (BREAK-TOL), Autoimmune CyTopenIa: genetics and pathophysiological mechaNism in pediatric Evans Syndrome, G1608103114, G250961418, Autoimmunity/inflammation Through Rnaseq Analysis at the single Cell level for Therapeutic Innovation, G2939690567, G4656594441, G5485624415, G7240651115
OpenAlex ID: W4402284145