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eosinophil peroxidase deficiency
Genetics:
- autosomal recessive
- associated with defects in EPX
Laboratory:
- peripheral blood smear shows nomalous eosinophils characterized by:
a) nuclear hypersegmentation
b) hypogranulation,
c) negative peroxidase & phospholipid staining
Related
eosinophil peroxidase (EPX, EPER, EPO, EPP)
General
genetic disease of the immune system
Database Correlations
OMIM 261500
References
OMIM :accession 261500