Conditions / Genetic

hereditary neutrophilia

info ยท Genetic

A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (C

A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.

Signs and symptoms

  • Splenomegaly
  • Increased total neutrophil count
  • Elevated leukocyte alkaline phosphatase
  • Granulocytic hyperplasia
  • Myelodysplasia