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Myeloperoxidase deficiency

Disease definition

A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.

ORPHA:2587

Classification level: Disorder
  • Synonym(s):
    • MPO deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: All ages
  • ICD-10: E80.3
  • ICD-11: 4A00.0Y
  • OMIM: 254600
  • UMLS: C0398595
  • MeSH: C562864
  • GARD: 3868
  • MedDRA: 10074767

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.