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Myeloperoxidase deficiency: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
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Myeloperoxidase deficiency is the most common congenital pathology of phagocytes; the frequency of complete hereditary myeloperoxidase deficiency is from 1:1400 to 1:12,000.
Hereditary myeloperoxidase deficiency. The inheritance pattern is autosomal recessive. Defects may be in structural or regulatory genes with a large variability of mutations. Myeloperoxidase is involved in the optimization of oxygen-dependent cytotoxicity, modulates the inflammatory response. Partial deficiency may be hereditary or acquired. Even with the complete absence of myeloperoxidase, phagocytosis and bactericidal activity of neutrophils are not impaired, since the MPO-independent system is used to destroy microorganisms. At the same time, patients do not have candida killer activity.
Hereditary myeloperoxidase deficiency is asymptomatic, but there is a tendency to fungal infection, especially in patients with diabetes - to invasive mycoses.
In case of myeloperoxidase deficiency, treatment of infections is carried out according to general principles. Antibiotics are prescribed with caution, especially in long courses. The prognosis is favorable.
There is no prevention of myeloperoxidase deficiency.
[ What tests are needed?
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