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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-05-2009
Symbol SGD
Location 14q11.2
Name neutrophil-specific granule deficiency
Other name(s) lactoferrin-deficient neutrophils
Corresponding gene CEBPE
Main clinical features
  • recurrent pyogenic infactions, defective neutrophil chemotaxis and bactericidal activity and lactoferrin deficiency as a consequence of lock of neutrophil secundary granule proteins
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name CAAT/enhancer binding protein C/EBP epsilin