Hematopoiesis disorders characterized by a maturation arrest of PROMYELOCYTES during granulopoiesis; peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe BACTERIAL INFECTIONS. Dominant mutations in the ELANE gene that result in a form of severe congenital neutropenia (SCN1) have been identified in about 60% of patients of European or Middle Eastern descent. OMIM: 202700. Autosomal recessive mutations have been identified in the HAX1 gene in SCN3/ Kostmann Disease (OMIM: 610738)
Also Known As:
Neutropenia, Severe Congenital, Autosomal Recessive 3; Agranulocytosis, Infantile; Agranulocytosis, infantile genetic; Autosomal dominant or sporadic congenital neutropenia; Congenital Agranulocytosis; Congenital Neutropenia; Infantile genetic agranulocytosis; Kostmann disease; Kostmann syndrome; Kostmann's Agranulocytosis; Kostmann's Syndrome; Severe Infantile Genetic Neutropenia; Severe congenital neutropenia