severe congenital neutropenia 6

A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3.

Signs and symptoms

• Decreased total neutrophil count
• Bone marrow maturation arrest
• Recurrent bacterial infections
• Recurrent otitis media
• Recurrent respiratory infections
• Short stature
• Failure to thrive

Also known as: SCN6; autosomal recessive severe congenital neutropenia due to JAGN1 deficiency