Q: What is the cause of severe congenital neutropenia?

Autosomal dominant causes include mutations in: ELANE GFI1 , which encodes transcriptional repressor oncoprotein GFI1 thus repressing CEBPA , CEBPE 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.

Q: What is the cause of severe congenital neutropenia?

Autosomal dominant causes include mutations in: ELANE GFI1 , which encodes transcriptional repressor oncoprotein GFI1 thus repressing CEBPA , CEBPE 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.

Question 1

What is the cause of severe congenital neutropenia?

William Aird · Accepted Answer

Autosomal dominant causes include mutations in:
- ELANE
- GFI1, which encodes transcriptional repressor oncoprotein GFI1 thus repressing CEBPA, CEBPE 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.

Question 2

What is the cause of severe congenital neutropenia?

William Aird · Accepted Answer

Autosomal dominant causes include mutations in:
- ELANE
- GFI1, which encodes transcriptional repressor oncoprotein GFI1 thus repressing CEBPA, CEBPE 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.

What is the cause of severe congenital neutropenia?

What is the cause of severe congenital neutropenia?

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