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Myeloperoxidase deficiency is a disorder featuring lack in either the quantity or the function of myeloperoxidase–an iron-containing protein expressed primarily in neutrophil granules. [ 1 ] [ 2 ] [ 3 ] There are two types of myeloperoxidase deficiency: primary/inherited and secondary/acquired. [ 4 ]
Myeloperoxidase (MPO) is a peroxidase enzyme that in humans is encoded by the MPO gene on chromosome 17. [5] MPO is most abundantly expressed in neutrophils (a subtype of white blood cells ), and produces hypohalous acids to carry out their antimicrobial activity, including hypochlorous acid, the sodium salt of which is the chemical in bleach.
Dapsone is the recommended treatment for erythema elevatum diutinum, as a review found that using oral dapsone alone was effective in 80% of early cases of the disease. However, dapsone can potentially cause severe side effects, meaning that sometimes steroids or other antibiotics should be used instead, although these alternative treatments ...
Specific deficiency of eosinophil peroxidase without concomitant deficiency of myeloperoxidase is rare. [19] In a clinical setting, deficiencies of leukocyte enzymes are conveniently studied by optical flow cytometry. [19] Specific deficiencies of myeloperoxidase were known since the 1970s.
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GATA2 deficiency is a grouping of several disorders caused by common defect, viz., familial or sporadic inactivating mutations in one of the two parental GATA2 genes. These autosomal dominant mutations cause a reduction, i.e. a haploinsufficiency , in the cellular levels of the gene's product, GATA2 .
The inability to belch -- known as no burp syndrome -- can cause discomfort and detract from quality of life. Here's why some doctors are using Botox injections to cure the condition.