myeloperoxidase deficiency


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myeloperoxidase deficiency

A common (1:500–2000) autosomal recessive condition (OMIM:254600) characterised by neutrophil dysfunction, resulting in a prolonged respiratory burst due to defective post-translational processing of an abnormal precursor protein.
 
Clinical findings
Usually asymptomatic–Candida infection may occur in patients with concomitant diabetes.
 
Molecular pathology
Defects of MPO on chromosome 17p22 cause myeloperoxidase deficiency.

Treatment
Unnecessary.

myeloperoxidase deficiency

Molecular medicine A common–1:500-2000 AR condition characterized by neutrophil dysfunction, resulting in a prolonged respiratory burst due to defective post-translational processing of an abnormal precursor protein Clinical Usually asymptomatic–Candida infection may occur in Pts with concomitant DM Treatment Unnecessary
References in periodicals archive ?
Aratani, "Myeloperoxidase deficiency in mice exacerbates lung inflammation induced by nonviable Candida albicans" Inflammation Research, vol.
Cornfield et al., "Myeloperoxidase deficiency enhances inflammation after allogeneic marrow transplantation," The American Journal of Physiology--Lung Cellular and Molecular Physiology, vol.
van Suylen et al., "Myeloperoxidase deficiency attenuates lipopolysaccharide-induced acute lung inflammation and subsequent cytokine and chemokine production," The Journal of Immunology, vol.
In chronic granulomatous disease and myeloperoxidase deficiency, patients have bacterial and candidal abscesses, but usually have normal IgE levels.
Bruchelt, Hagocytic-Activity and Oxidative Burst of Granulocytes in Persons with Myeloperoxidase Deficiency, J.
Clinical manifestation of myeloperoxidase deficiency. J Mol Med 1998;76:676-681.
Genetic characterization of myeloperoxidase deficiency in Italy.
Gothot, "Consequences of total and subtotal myeloperoxidase deficiency: risk or benefit?" Acta Haematologica, vol.
Inborn metabolic errors of white blood cells: myeloperoxidase deficiency of neutrophils and monocytes physiopathological consequences.