eosinophil peroxidase deficiency

Genetics

• autosomal recessive
• associated with defects in EPX

Laboratory

• peripheral blood smear shows nomalous eosinophils characterized by:
  • nuclear hypersegmentation
  • hypogranulation,
  • negative peroxidase & phospholipid staining

More general terms

• genetic disease of the immune system

Additional terms

• eosinophil peroxidase (EPX, EPER, EPO, EPP)

Database

• OMIM: https://mirror.omim.org/entry/261500