Severe congenital neutropenias, including Kostmann syndrome

Autosomal dominant or sporadic congenital neutropenia (SCN1) is caused by mutation in the neutrophil elastase gene (ELA2; 130130). Mutations in the protooncogene GFI1 (600871, which targets ELA2, also cause neutropenia (SCN2). As in the case of the ELA2 mutations, those in GFI1 causing neutropenia are heterozygous. Autosomal recessive severe congenital neutropenia (SCN3; 610738) is caused by homozygous mutations in the HAX1 gene. Kostmann disease (SCN3) is characterized by an absolute neutrophil count (ANC) less than 500/mm3. Severe persistent neutropenia results in an increased susceptibility to frequent bacterial infections. The main feature is cytological: granulocyte are blocked at the promyelocytic stage, eosinophilia and monocytosis.

Alternative names


Infantile genetic agranulocytosis

Kostmann disease

Genetic infantile agranulocytosis


  • Defects of phagocyte function
    • Neutropenia
      • Cyclic neutropenia and severe congenital neutropenias. Include Kostmann syndrome


Autosomal dominant


#202700 Neutropenia, congenital, autosomal dominant or sporadic

*130130 Elastase 2; ELA2

*138971 Colony-stimulating factor 3, granulocyte; CSF3R

*600871 Growth factor-independent 1; GFI1

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Cyclic neutropenia


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