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Myeloperoxidase deficiency and other enzymatic WBC defects causing immunodeficiency

Sergio D Rosenzweig, MD
Steven M Holland, MD
Section Editor
Luigi D Notarangelo, MD
Deputy Editor
Elizabeth TePas, MD, MS


There are a small number of well-described genetic defects in hematopoietic cell enzymes or transporter proteins that can result in neutrophil dysfunction and immunodeficiency. Two of these, myeloperoxidase (MPO) deficiency and glucose-6-phosphate dehydrogenase (G6PD) deficiency, are relatively common. The others presented in this topic review, glutathione reductase (GR) deficiency, glutathione synthetase (GS) deficiency, and glycogen storage disease type 1b (GSD1b), are rare.

This topic review provides an overview of the genetic defects responsible for each of these disorders as well as their clinical manifestations, diagnosis, and treatment. The focus of this review, however, is the mechanism of neutrophil or leukocyte dysfunction in each condition that leads to immunodeficiency.

Some of these conditions are discussed in other contexts elsewhere. (See "Diagnosis and management of glucose-6-phosphate dehydrogenase deficiency" and "Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease)" and "Congenital neutropenia".)


Myeloperoxidase (MPO) deficiency (MIM# 254600) is an autosomal recessive inherited disorder with a variable clinical phenotype. It is also the most common primary phagocyte disorder [1-4]:

1 in 4000 individuals have complete MPO deficiency

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Literature review current through: Oct 2017. | This topic last updated: Oct 26, 2016.
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