Cebpe, also known as CCAAT enhancer-binding protein epsilon, is a crucial transcription factor involved in late myeloid lineage differentiation and cellular function. It plays a vital role in granulocytic differentiation, with its expression being essential for the normal development and function of neutrophils [4,5,6].

In acute myeloid leukemia (AML), Cebpe expression serves as an independent prognostic factor for overall survival (OS) and event-free survival (EFS). Low-expression of Cebpe is associated with a high relapse rate, and it can stratify wild-type patients of multiple genes into different outcome groups. Allogeneic transplantation shows different effects based on Cebpe expression levels in AML patients [1].

In bone marrow neutrophils, Cebpe is required for the generation of a committed proliferative neutrophil precursor (preNeu) from the granulocyte-macrophage progenitor (GMP), and as these cells mature, their functions shift from proliferation to migration and effector functions [2].

Loss-of-function variants in the Cebpe gene lead to specific granule deficiency (SGD), resulting in severe infections and profound neutropenia, as seen in two siblings with a novel homozygous Cebpe deletion [3]. A homozygous Arg219His mutation in Cebpe causes a novel autoinflammatory disease with defective neutrophil function through a gain-of-function mechanism that dysregulates the transcription of many genes and noncanonical inflammasome activation [4].

In summary, Cebpe is essential for granulocytic differentiation and normal neutrophil function. Its study, especially through gene-knockout models which help reveal its role in disease conditions, has shown its significance in acute myeloid leukemia, neutrophil-related immunodeficiency, and autoinflammatory diseases. Understanding Cebpe provides insights into these biological processes and potential therapeutic targets for related diseases.