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Recent topics and advanced therapies in chronic granulomatous disease

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Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by the inability of phagocytes to produce reactive oxygen species (ROS) owing to a defect in any of the five components (CYBB/gp91phox, CYBA/p22phox, NCF1/p47phox, NCF2/p67phox, and NCF4/p40phox) and a concomitant regulatory component of Rac1/2 and CYBC1/Eros of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Patients with CGD are at an increased risk of life-threatening infections caused by catalase-positive bacteria and fungi and of inflammatory complications such as CGD colitis. Antimicrobial and azole antifungal prophylaxes have considerably reduced the incidence and severity of bacterial and improved fungal infections and overall survival. CGD studies have revealed the precise epidemiology and role of NADPH oxidase in innate immunity which has led to a new understanding of the importance of phagocyte oxygen metabolism in various host-defense systems and the fields leading to cell death processes. Moreover, ROS plays central roles in the determination of cell fate as secondary messengers and by modifying of various signaling molecules. According to this increasing knowledge about the effects of ROS on the inflammasomal system, immunomodulatory treatments, such as IFN-γ and anti-IL-1 antibodies, have been established. This review covers the current topics in CGD and the relationship between ROS and ROS-mediated pathophysiological phenomena. In addition to the shirt summary of hematopoietic stem cell transplantation and gene therapy, we introduce a novel ROS-producing enzyme replacement therapy using PEG-fDAO to compensate for NADPH oxidase deficiency.

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Abbreviations

CGD:

Chronic Granulomatous Disease

ROS:

Reactivating Oxygen Species

ASC:

Apoptosis-associated Speck-like protein containing CARD

CARD:

Caspase-recruitment domain

NLRP3:

Nod-like receptor protein 3

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Acknowledgements

We would like to express our sincere gratitude to the late Professor Emeritus Hiroshi Maeda of Sojo University (the late Director of BioDynamics Research Foundation in Kumamoto) for his proposal of the basic concept of enzyme replacement therapy with PEGylated DAO for the treatment of CGD. We would also like to thank tProfessor Emeritus Shiro Kanegasaki of The University of Tokyo for his critical reading and Editage (www.editage.com) for English language editing.

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Authors and Affiliations

  1. Division of Pediatrics, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake-cho, Miyazaki-City, Miyazaki, 889-1692, Japan

    Hiroyuki Nunoi & Toyoki Nishimura

  2. Aisenkai Nichinan Hospital, 3649-2 Kazeta, Nichinan-City, Miyazaki, 887-0034, Japan

    Hiroyuki Nunoi

  3. Laboratory of Environmental Science and Technology, Faculty of Pharmaceutical Sciences, Sojo University, 4-22-1 Ikeda, Nishi-Ku, Kumamoto City, 860-0082, Japan

    Hideki Nakamura

  4. Laboratory of Clinical Pharmacology and Therapeutics, Faculty of Pharmaceutical Sciences, Sojo University, 4-22-1 Ikeda, Nishi-Ku, Kumamoto City, 860-0082, Japan

    Makoto Matsukura

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13577_2022_846_MOESM1_ESM.pptx

Supplementary file1 Supplementary Fig.1: Prevalence of CGD in Japan. Patients with CGD in Japan were registered between the 1960s and 2016. Prevalence was calculated as 6.09 +/- 2.15 patients/million births/year from1982 to 2013, which means one patients/121~254 X 103 births. Supplementary Table 1: Comparison of CGD subtypes between Japan and NIH US. Until January 2016, 378 patients with CGD were registered in Japan. CGD subtype was analyzed by flow cytometry or wester blotting, which was compared with the report of NIH (N Engl J Med 363(27):2600-2610,2010). Figures in parentheses show patients diagnosed by gene analysis (PPTX 55 KB)

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Nunoi, H., Nakamura, H., Nishimura, T. et al. Recent topics and advanced therapies in chronic granulomatous disease. Human Cell 36, 515–527 (2023). https://doi.org/10.1007/s13577-022-00846-7

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