Neutrophil-specific granule deficiency

Specific granule deficiency is a rare congenital disorder. The CEBPE gene encodes a transcription factor, which is expressed primarily during granulocytic differentiation. Individuals with specific granule deficiency express normal levels of lactoferrin and transcobalamin in their saliva but not in either their plasma or neutrophils. Specific granule deficiency involves morphological and functional abnormalities in neutrophils and eosinophils and is characterised by lack of specific or secondary granules in developing mature neutrophils.

Alternative names


Specific granule deficiency

Lactoferin-deficient neutrophils

Neutrophil lactoferrin deficiency


  • Defects of phagocyte function



#245480 Specific granule deficiency, SGD

*600749 Ccaat/enhancer-binding protein, epsilon; CEBPE


Incidence is not known.