Severe congenital neutropenia (SCN) is characterized by severe isolated neutropenia from birth, recurring bacterial infections, and a marked propensity to develop a myelodysplastic syndrome or acute myeloid leukemia. SCN is a genetically heterogeneous disorder (see figure). Mutations of ELANE encoding neutrophil elastase (NE) account for ;60% of cases (all in autosomal dominant or sporadic SCN)...
