Neutrophil immaturity and ELANE mislocalization impair NETosis in ELANE-associated neutropenia

Congenital neutropenia (CN) is mostly attributable to mutations within the ELANE gene, which encodes neutrophil elastase; it’s characterised by decreased neutrophil counts (in extreme circumstances, <500/μL; in delicate circumstances, 500-1500/μL). Mutant ELANE disrupts granulopoiesis within the bone marrow, leading to neutropenia.1 Paradoxically, full lack of ELANE doesn’t have an effect on neutrophil improvement, nevertheless it severely compromises neutrophil extracellular lure (NET) launch by peripheral neutrophils.2-4 These contrasting observations counsel that mutant ELANE exerts distinct pathologic results in each granulopoiesis and NET operate versus these attributable to ELANE deficiency.

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