ORPHA:423384
Severe congenital neutropenia due to JAGN1 deficiency
Also called SCN due to JAGN1 deficiency, Severe congenital neutropenia due to jagunal homolog 1 deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:423384 is classified under "Immunological diseases" in the Orphanet nomenclature.