Loss of HSC stemness identity is associated with exhaustion and hyporesponsiveness in GATA2 deficiency syndrome
L. Largeaud, V. Fregona, L. Jamrog, C. Hamelle, S. Dufrechou, N. Prade, E. Sellam, P. Enfedaque, M. Bayet, S. Hebrard, M. Bouttier, C. Didier, E. Delabesse, B. Gerby, M. Pasquet, C. Broccardo
This study shows that GATA2 mutations impair HSC function by reducing self-renewal and responsiveness to inflammation, leading to immunodeficiency and myeloid malignancies.
bioRxiv · Aug 7, 2023 · PreprintCell Biology