severe congenital neutropenia 3

A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that

A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3.

Signs and symptoms

• Clumsiness
• Sensorineural hearing impairment
• Recurrent bacterial infections
• Intellectual disability
• Decreased total neutrophil count
• Impaired vibratory sensation
• Conductive hearing impairment
• Global developmental delay
• Seizure
• Acute lymphoblastic leukemia

Also known as: Kostmann disease; Kostmann syndrome; SCN3; infantile agranulocytosis