Myeloperoxidase deficiency
Definition:
Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described.
References:
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[1]. F R DeLeo, et al. A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation. J Clin Invest. 1998 Jun 15;101(12):2900-9. [Content Brief]
[2]. Megan S Lim, et al. The molecular pathology of primary immunodeficiencies. J Mol Diagn. 2004 May;6(2):59-83. [Content Brief]
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