ORPHA:619941
Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
Also called Congenital neutropenia-CID due to MKL1 deficiency, Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency, MKL1-related neutrophil motility defect
- 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:619941 is classified under "Immunological diseases" in the Orphanet nomenclature.