label: Severe Congenital Neutropenia Type 7, Autosomal Recessive
label_lc: severe congenital neutropenia type 7, autosomal recessive
description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the CSF3R gene, encoding granulocyte colony-stimulating factor receptor. It is characterized by the onset of recurrent infections in infancy or early childhood and peripheral neutropenia, despite normal granulocyte maturation, that is unresponsive to treatment with G-CSF.