| autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'colony stimulating factor 3 receptor' (aandoening) |
| autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'colony stimulating factor 3 receptor' |
| autosomaal recessieve ernstige congenitale neutropenie door CSF3R-deficiëntie
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| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency
Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency
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| A rare genetic primary immunodeficiency disorder with characteristics of predisposition to recurrent life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes 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. |
