Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Dirk Roos*, Karin van Leeuwen, Amy P. Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Amit Rawat, Pandiarajan Vignesh, Manesha Madkaikar, Marie José Stasia, Faris Ghalib Bakri, Martin de Boer, Joachim Roesler, Nezihe Köker, M. Yavuz Köker, Marianne Jakobsen, Jacinta Bustamante, Maria Bravo Garcia-Morato, Juan Luis Valdivieso Shephard, Deniz CagdasIlhan Tezcan, Roya Sherkat, Esmaeil Mortaz, Abbas Fayezi, Mohammad Shahrooei, Baruch Wolach, Lizbeth Blancas-Galicia, Hirokazu Kanegane, Toshinao Kawai, Antonio Condino-Neto, Mauno Vihinen, Christa S. Zerbe, Steven M. Holland, Harry L. Malech, John I. Gallin, Douglas B. Kuhns

*Kontaktforfatter for dette arbejde

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species (ROS). These products are essential for intracellular killing of pathogens by phagocytic leukocytes (neutrophils, eosinophils, monocytes and macrophages). The leukocyte NADPH oxidase is composed of five subunits, four of which are encoded by autosomal genes. These are CYBA, encoding p22phox, NCF1, encoding p47phox, NCF2, encoding p67phox and NCF4, encoding p40phox. This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome b558 chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91phox (also called Nox2), is encoded by the autosomal gene CYBC1. Mutations in this gene also lead to CGD. Finally, RAC2, a small GTPase of the Rho family, is needed for activation of the NADPH oxidase, and mutations in the RAC2 gene therefore also induce CGD-like symptoms. Mutations in these last two genes are also listed in this article.

OriginalsprogEngelsk
Artikelnummer102596
TidsskriftBlood Cells, Molecules and Diseases
Vol/bind92
ISSN1079-9796
DOI
StatusUdgivet - dec. 2021

Bibliografisk note

Funding Information:
M.J.S. is grateful for support from the University Grenoble Alpes (UGA) (AGIR program 2014); the Interreg France-Suisse [Programme de Cooperation Territoriale Européenne, Fonds Européen de Développement Régional (FEDER), 2017–2019], the Delegation for Clinical Research and Innovations, University Hospital Grenoble Alpes (CHUGA) (DRCI, Rementips project 2014).

Funding Information:
M.Y.K. is grateful for financial support from TÜBITAK within the 114S352 project, and from the University of Erciyes BAP , within the TDK-2021-10937 and 2021-10932 projects.

Funding Information:
L.B.-G. thanks FUMENI A.C. (Fundacion Mexicana para Niñas y Niños con Inmunodeficiencias Primarias A.C.) for financial support.

Funding Information:
At the National Institutes of Health, peripheral blood samples were obtained upon informed consent, according to protocols 93-I-0119 and 05-I-0213, approved by the National Institutes of Health Institutional Review Board. Funding for this study was provided in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases , National Institutes of Health and in part with federal funds from the National Cancer Institute , National Institutes of Health, under Contract No. HHSN261200800001E . The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government.

Funding Information:
At the National Institutes of Health, peripheral blood samples were obtained upon informed consent, according to protocols 93-I-0119 and 05-I-0213, approved by the National Institutes of Health Institutional Review Board. Funding for this study was provided in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health and in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. M.J.S. is grateful for support from the University Grenoble Alpes (UGA) (AGIR program 2014); the Interreg France-Suisse [Programme de Cooperation Territoriale Europ?enne, Fonds Europ?en de D?veloppement R?gional (FEDER), 2017?2019], the Delegation for Clinical Research and Innovations, University Hospital Grenoble Alpes (CHUGA) (DRCI, Rementips project 2014). M.Y.K. is grateful for financial support from T?BITAK within the 114S352 project, and from the University of Erciyes BAP, within the TDK-2021-10937 and 2021-10932 projects. L.B.-G. thanks FUMENI A.C. (Fundacion Mexicana para Ni?as y Ni?os con Inmunodeficiencias Primarias A.C.) for financial support.

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