severe congenital neutropenia 7

A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in

A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3.

Signs and symptoms

• Recurrent infections
• Decreased total neutrophil count
• Bone marrow maturation arrest

Also known as: SCN7; autosomal recessive severe congenital neutropenia due to CSF3R deficiency