Sophie de Tocqueville, Emmanuel Martin, Quentin Riller, Laëtitia Kermasson, Benoit France, Aude Magérus, Frédéric Rieux-Laucat, François Delhommeau, Pierre Hirsch, Aurore Touzart, Aude Echalier, Alain Fischer, Despina Moshous, Patrick Revy
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引用次数: 0
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.
期刊介绍:
The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.