Types

 autosomal dominant congenital agranulocytosis
 autosomal recessive congenital agranulocytosis (Kostmann disease)
 sporadic agranulocytosis

Etiology

 germline mutations in the gene ELA2 encoding neutrophil elastase (NE) in autosomal recessive congenital agranulocytosis (Kostmann disease)

• (also cause the human diseases cyclic neutropenia)

 germline mutations in the protooncogene GFI1 (MIM.600871)

• GFI1 product targets ELA2

See also

 Kostmann disease (autosomal recessive congenital agranulocytosis)

References

 Horwitz M, Benson KF, Duan Z, Li FQ, Person RE. Hereditary neutropenia: dogs explain human neutrophil elastase mutations. Trends Mol Med. 2004 Apr;10(4):163-70. PMID: #15059607#