ELANE

The ELANE gene encodes neutrophil elastase, a serine protease crucial for neutrophil function. Known as elastase, neutrophil expressed, this protein is primarily expressed in neutrophils and plays a pivotal role in inflammation and infection defense. It modifies cell and protein functions to combat infections by degrading extracellular matrix proteins. ELANE mutations are associated with cyclic neutropenia and severe congenital neutropenia, leading to recurrent infections and increased susceptibility to infections. Research into ELANE mutations has spurred drug development for neutropenia treatment, focusing on G-CSF therapy and hematopoietic stem cell transplantation.