- Autosomal dominant causes include mutations in:
- GFI1, which encodes transcriptional repressor oncoprotein GFI1 thus repressing CEBPA, CEBPE and ELANE, important regulators of myeloid differentiation and neutrophil function
- Autosomal recessive causes include mutations in:
- HAX1, which encodes an antiapoptotic gene (also called Kostmann syndrome)
- G6PC3, which encodes a neutrophil-specific catalytic subunit of glucose-6-phosphatase
- Unidentified genetic cause in up to 30% of SCN patients.