For this study, researchers wanted to highlight the pathogenic processes and clinical consequences of the most illustrative congenital neutropenia syndromes genetic entities. Monogenetic entities with or without additional immunologic and extra hematopoietic syndrome characteristics made up congenital neutropenia. Continuous rigorous examinations of recognized entities such as ELANE, GFI1, HAX1, G6PC3 deficiency, and XLN aided in the definition of principles governing neutrophil granulocyte differentiation and function. Furthermore, the discovery of new genetic disorders was linked to congenital neutropenia, such as VPS45 deficiency, added to the knowledge of neutrophil biology. Protein and vesicle mistrafficking, endoplasmic reticulum stress, the unfolded protein response, instability of the mitochondrial membrane potential, disrupted energy metabolism, deglycosylation, and unregulated actin polymerization were some of the pathogenic pathways.
Researchers now have a better understanding of congenital neutropenia syndromes because of advanced genetic and biochemical approaches. The homeostasis and function of the neutrophil granulocyte, as well as the complete hematopoietic system, are elucidated by known and new genetic entities. Treatment decisions are also becoming more targeted, which might pave the way for personalized molecular medicine.
