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GENATLAS PHENOTYPE

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

Remark(s)