eosinophil peroxidase deficiency

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eosinophil peroxidase deficiency2016-12-25T03:15:36+00:00

eosinophil peroxidase deficiency


A rare, clinically asymptomatic condition (OMIM:261500) characterised by decreased or absent peroxidase activity and decreased volume of the granule matrix in eosinophils.

Molecular pathology Defects of EPX. which encodes eosinophil peroxidase, a precursor protein that acts as an oxidant, cause eosinophil peroxidase deficiency. 

Synonyms Eosinophil peroxidase deficiency—partial, peroxidase and phospholipid deficiency in eosinophils, Presentey anomaly 

References http://www.uniprot.org/uniprot/P11678


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