myeloperoxidase deficiency

Pathology: -> absent myeloperoxidase due to pre- & post-translational defects Genetics: - autosomal recessive - associated with defects in myeloperoxidase Clinical manifestations: - clinically normal except in patients with underlying disease especially diabetes - disseminated candidiasis or other fungal infection Laboratory: -> absent peroxidase in neutrophils

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 356