ELANE and severe congenital neutropenia: In severe congenital neutropenia (SCN), mutations such as ELANE p.Ala79del (c.234_236del) and p.Val197GlufsTer18 (c.589_590insAGGCCGGC) disrupt neutrophil elastase function, while a de novo SEC61A1 missense mutation (c.A275G; p.Q92R) further expands the genetic heterogeneity of SCN [27, 28].