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Myeloperoxidase deficiency Classification and external resources Hypochlorous acid is normally produced by myeloperoxidase OMIM 254600 DiseasesDB 8662 eMedicine ped/1530 Myeloperoxidase deficiency is a common genetic disorder featuring deficiency, either in quantity or function, of myeloperoxidase, an enzyme found in certain phagocytic immune cells, especially polymorphonuclear leukocytes. It can appear similar to chronic granulomatous disease on some screening tests.[1] Presentation Although MPO deficiency classically presents with immune deficiency (especially candida albicans infections), the majority of individuals with MPO deficiency show no signs of immunodeficiency. The lack of severe symptoms suggest that role of myeloperoxidase in the immune response must be redundant to other mechanisms of intracellular killing of phagocytosed bacteria.[2] Patients with MPO deficiency have a respiratory burst with a normal NBT dye test because they still have NADPH oxidase activity, but do not form bleach due to their lack of myeloperoxidase activity. This is in contrast to chronic granulomatous disease in which the NBT test is negative due to the lack of NADPH oxidase activity. References ^ Mauch L, Lun A, O'Gorman MR, et al. (May 2007). "Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD". Clin. Chem. 53 (5): 890–6. doi:10.1373/clinchem.2006.083444. PMID 17384005. http://www.clinchem.org/cgi/pmidlookup?view=long&pmid=17384005.  ^ Levinson, Warren. "Medical Microbiology & Immunology, 8th ed." Lange:2004. v · d · eHematologic disease: Monocyte and granulocyte disease (CFU-GM/CFU-Baso/CFU-Eos), including immunodeficiency (D70-D71, 288) Monocytes/ macrophages ↑ Histiocytosis · Chronic granulomatous disease -cytosis: Monocytosis ↓ -penia: Monocytopenia Granulocytes ↑ -cytosis: granulocytosis (Neutrophilia, Eosinophilia/Hypereosinophilic syndrome, Basophilia, Bandemia) ↓ -penia: Granulocytopenia/agranulocytosis (Neutropenia/Kostmann syndrome · Eosinopenia · Basopenia) PBD chemotaxis/degranulation: Leukocyte adhesion deficiency (LAD1, LAD2) · Chédiak–Higashi syndrome respiratory burst: (Chronic granulomatous disease, Neutrophil immunodeficiency syndrome, Myeloperoxidase deficiency) M: MYL cell/phys (coag, heme, gran), csfs rbmg/mogr/tumr/hist, sysi/epon, btst drug (B1/2/3+5+6), btst, trns This immunology article is a stub. You can help Wikipedia by expanding it.v · d · e This genetic disorder article is a stub. You can help Wikipedia by expanding it.v · d · e