Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 06-10-2020
Symbol MPOD
Location 17q22
Name myeloperoxidase deficiency
Other name(s) MPO deficiency
Corresponding gene MPO
Main clinical features
  • mild immune deficiency
  • infections, recurrent, with disseminated candidiasis
  • in any cases pustular skin disease, and increased prevalence of spondyloarthropathy (PMID: 32758448))
  • no detectable activity of the lysosomal enzyme myeloperoxidase in neutrophils and monocytes of a patient with disseminated candidiasis
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name myeloperoxidase