severe congenital neutropenia 3 (DOID:0112133)
Alliance: disease page
Synonyms: infantile agranulocytosis; Kostmann disease; Kostmann syndrome; SCN3
Alt IDs: OMIM:610738, ORDO:99749
Definition: 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.