The overall aim of this work is to understand how biallelic CEBPA mutations block differentiation and contributed to the development of acute myeloid leukemia (AML). This [...]

Chronic Neutrophilic Leukemia (CNL) is a myeloproliferative neoplasm characterized by an overproduction of mature neutrophils. In over 90% of CNL cases, patients present [...]

Mutations in hemojuvelin (HJV) lead to the iron overload disorder juvenile hemochromatosis. HJV regulates iron metabolism by activating transcription of the iron regulat [...]

The chapters of this dissertation focus on understanding the mechanisms by which different CSF3R mutations identified in CNL drive leukemic transformation, with the ultim [...]

Systemic mastocytosis (SM), is a rare blood disorder that is characterized by the over-proliferation of mast cells caused by a gain-of-function mutations in KIT, a recept [...]