NDLI: Monocyte/macrophage-Specific NADPH Oxidase Contributes to Antimicrobial Host Defense in X-CGD

Content Provider	Springer Nature Link
Author	Okura, Yuka Yamada, Masafumi Kuribayashi, Futoshi Kobayashi, Ichiro Ariga, Tadashi
Copyright Year	2015
Abstract	Chronic granulomatous disease (CGD) is a primary immunodeficiency disease that is characterized by susceptibility to bacterial and fungal infections. Various mutations in CYBB encoding the gp91$^{phox}$ subunit of the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase impair the respiratory burst of all types of phagocytic cells and result in X-linked CGD (X-CGD).We here sought to evaluate the underlying cause in an attenuated phenotype in an X-CGD patient. The patient is a 31-year-old male who had been diagnosed as having X-CGD based on the absence of nitroblue tetrazolium reduction and the presence of a CYBB mutation at the age of 1 year. He has been in good health after overcoming recurrent bacterial infections in infancy.We investigated genomic DNA analysis of CYBB gene, residual activity of NADPH oxidase, and expression of gp91$^{phox}$ in both polymorphonuclear leukocytes (PMNs) and monocytes/macrophages in the present patient.Although his underlying germline mutation, c.1016C>A (p.P339H) in the CYBB gene, was identified in both PMNs and monocytes, the expression and functional activity of gp91$^{phox}$ retained in monocytes/macrophages, in stark contrast to markedly reduced PMNs.Our results indicate that residual reactive oxygen intermediates (ROI) production in PMNs plays an important role in infantile stage in X-CGD, but thereafter retained function of monocytes/macrophages might compensate for the function of NADPH oxidase deficient PMNs and might be an important parameter for predicting the prognosis of X-CGD patients.
Starting Page	158
Ending Page	167
Page Count	10
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	35
Issue Number	2
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2015-02-10
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	X-linked chronic granulomatous disease monocyte macrophage NADPH oxidase Immunology Infectious Diseases Internal Medicine Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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