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myeloperoxydase deficiency

MIM.254600

Wednesday 23 November 2005

Autosomal recessive disease.

Synopsis

- disseminated candidiasis

Laboratory

- decreased myeloperoxidase activity in neutrophils and monocytes
- absence of peroxidase staining in neutrophils and monocytes
- normal eosinophil peroxidase activity

Etiology

- germline mutations in the myeloperoxidase gene (MPO) (MIM.606989)