Аутосомно-рецесивна тяжка вроджена нейтропенія, зумовлена дефіцитом CSF3R
ORPHA:420702· ICD-10 D70· Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Визначення(English summary)
A rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal