GFI1 deficiency

Defects in protooncogene GFI1, are a cause of autosomal dominant severe congenital neutropenia (SCN). ELA2 mutations cause cyclic hematopoiesis and about two thirds of severe congenital neutropenia (SCN) cases. Mutations in WAS (different from those causing Wiskott-Aldrich thrombocytopenia) also cause severe congenital neutropenia (SCN). Mutations in GFI1 produce immature neutrophils and monocytes. The combined neutropenia and immunodeficiency resembles WHIM ( syndrome of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis), but neutrophils have an undifferentiated appearance different from the hypermature appearance of neutrophils in WHIM syndrome. Neutropenia causing GFI1 causing mutations are heterozygous.

Alternative names


severe congenital neutropenia


  • Defects of phagocyte function
    • Severe congenital and cyclic neutropenias
      • Cyclic neutropenia


Autosomal dominant


#202700 Neutropenias, severe congenital ; SCN

*600871 Growth factor-independent 1; GFI1

*130130 ELASTASE 2; ELA2


Incidence is not known.