Elane, encoding neutrophil elastase, is closely associated with neutrophil maturation and functions [2,4,5,6,8]. Neutrophil elastase is involved in leukocyte transmigration to infection sites and clearance of Gram-negative bacteria, but also activates inflammation in chronic airway diseases [7]. It is crucial in innate immune responses and has been linked to multiple disease-related pathways.

Mutations in Elane cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN), with diverse mutations observed in patients [4]. These mutations can lead to impaired neutrophil differentiation, and patients may be at risk of developing myelodysplasia or acute myeloid leukemia [2,4,5,8]. In gastric cancer, Elane is significantly up-regulated, affecting patient survival and involved in pyroptosis and immune infiltration, potentially serving as a prognostic biomarker [1]. Human neutrophils release catalytically active Elane to selectively kill cancer cells, suggesting its potential as an anti-cancer therapy [3].

In conclusion, Elane is essential for neutrophil-related functions and innate immunity. Research on Elane-associated neutropenia and its role in cancer, through genetic models and patient studies, has provided insights into disease mechanisms. Understanding Elane's functions can offer new perspectives for treating neutropenia, leukemia, and gastric cancer.