Paper in Blood Cancer Journal

The latest publication, authored by consortium partners Marlène Pasquet, Laetitia Largeaud, Camille Hamelle, Eric Delabesse, & Cyril Broccardo, was published on January 30, 2025, in Blood Cancer Journal. This study aimed to elucidate how GATA2 germline mutations affect hematopoietic homeostasis. To this effect, a knock-in mouse model was created expressing the recurrent Gata2 R396Q missense mutation.

The study found the impact of this mutation to be detrimental to the Hematopoietic Stem Cell compartment, contributing to its functional decline. Importantly, this study provides a valuable model to study allele-specific expression-related pathology observed in GATA2 deficiency, shedding light on the mechanisms contributing to the disease’s natural progression.

You can read it here in full: Largeaud L, Fregona V, Jamrog LA, Hamelle C, Dufrechou S, Prade N, et al. GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome. Blood Cancer J. 2025 Jan 30;15(1):7.