What is the cause of severe congenital neutropenia?

By William Aird

  • Autosomal dominant causes include mutations in:
    • ELANE
    • GFI1, which encodes transcriptional repressor oncoprotein GFI1 thus repressing CEBPACEBPE and ELANE, important regulators of myeloid differentiation and neutrophil function
    • CSF3R
  • 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
    • VPS45
    • JAGN1
    • CSF3R
  • Unidentified genetic cause in up to 30% of SCN patients.