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