Myeloperoxidase deficiency

Myeloperoxidase (MPO) deficiency is a common inherited disorder linked to increased susceptibility to infection and malignancy. Myeloperoxidase (MPO) enzyme is expressed in the azurophilic granules of neutrophils and in the lysosomes of monocytes. Its major role is to aid in microbial killing. MPO deficiency can be divided into two subgroups: primary (congenital) and secondary (acquired). Primary MPO deficiency has a genetic origin, present varying degree of severity in more than one family member, and involves both the neutrophil and monocyte lineages.

Alternative names

MPO deficiency

Alius-Grignashi-Anomaly

Grignashi anomaly

Classification

  • Defects of phagocyte function

Inheritance

Autosomal recesseive

OMIM

#254600 Myeloperoxidase deficiency

*606989 Myeloperoxidase, MPO

Cross references

Phenotypically related immunodeficiencies

-

Incidence

1:2000