Ads
related to: myeloperoxidase deficiency
Search results
Results From The WOW.Com Content Network
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.
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.
Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, [1] is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. [2]
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 .
Deficiency in serotonin and adenosine-phosphate-containing granules in platelets causes impaired platelet aggregation, leading to prolonged bleeding time. Thus, patients are susceptible to infections and often present with oculo-cutaneous albinism and coagulation defects. [ 3 ]