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GENATLAS PHENOTYPE

last update : 12/07/2006

Symbol	EPXD
Location	17q24-q25
Name	eosinophil peroxidase deficiency
Corresponding gene	EPX
Main clinical features	anomaly of eosinophils characterized by nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining; at the electron microscopic analyses of peroxidase-deficient eosinophils showed an increase in the ratio between the size of the matrix and the core of the specific granules
Genetic determination	autosomal recessive
Function/system disorder	hematology
Type	disease