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Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
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Germline mutations in CYBB, the human gene encoding the gp91(phox) subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). We report here two kindreds in which otherwise healthy male adults developed X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD) syndromes. These patients had previously unknown mutations in CYBB that resulted in an impaired respiratory burst in monocyte-derived macrophages but not in monocytes or granulocytes. The macrophage-specific functional consequences of the germline mutation resulted from cell-specific impairment in the assembly of the NADPH oxidase. This 'experiment of nature' indicates that CYBB is associated with MSMD and demonstrates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to tuberculous mycobacteria.
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“It has also been observed that both mutations or polymorphisms in the humans NOS2 or NOX2 genes are associated with an increased susceptibility to or a more severe course of tuberculosis (74, 75).”
From Macrophage defense mechanisms against intracellular bacteria (2015) · cites this paper as [75]
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Metadata
- Authors
- Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., de Beaucoudrey, L., Puel, A., Feinberg, J., Valinetz, E., Jannière, L., Besse, C., Boland, A., Brisseau, J.-M., Blanche, S., Lortholary, O., Fieschi, C., Emile, J.-F., Boisson-Dupuis, S., Al-Muhsen, S., Woda, B., Newburger, P. E., Condino-Neto, A., Dinauer, M. C., Abel, L., & Casanova, J.-L.
- Affiliations
- Inserm (FR)
- Rockefeller University (US)
- Indiana University Indianapolis (US)
- Centre Hospitalier Universitaire de Nantes (FR)
- Hôpital Necker-Enfants Malades (FR)
- University of Massachusetts Chan Medical School (US)
- Corresponding author
- Casanova, Jean-Laurent
- ORCID
- Venue
- Nature Immunology
- Published
- 2011-01-30
- Volume
- 12
- Issue
- 3
- Pages
- 213-221
- ISSN
- 1529-2908 (ISSN-L)
- 1529-2916
- PMC
- PMC3097900
- OpenAlex
- W1973241546
- Cited by
- 287
- References
- 52
- Citations by year
- 2026: 7 · 2025: 6 · 2024: 15 · 2023: 14 · 2022: 17 · 2021: 22 · 2020: 16 · 2019: 29 · 2018: 17 · 2017: 11 · 2016: 16 · 2015: 13 · 2014: 28 · 2013: 32 · 2012: 27
- FWCI
- 14.39
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- Locations
- Nature Immunology (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repository University of Antioquia (University of Antioquia) (publishedVersion, cc-by)
- Scientific Electronic Library Online (São Paulo Research Foundation, Latin American and Caribbean Center on Health Sciences Information, Conselho Nacional de Desenvolvimento Científico e Tecnológico) (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- eScholarship@UMassChan (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- March of Dimes Foundation
- Riley Children's Foundation
- Agence Nationale de la Recherche
- Institut National de la Santé et de la Recherche Médicale
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Institut Universitaire de France
- National Institutes of Health
- National Heart, Lung, and Blood Institute (R01HL045635, HL045635)
- National Institute of Allergy and Infectious Diseases (R21AI079788, R01AI089970, AI079788, R37AI095983)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK054369, DK-54369)
- National Center for Research Resources (UL1RR024143)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Infectious Diseases › Tuberculosis Research and Epidemiology
- Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Keywords
- CYBB, gp91phox, NADPH oxidase, X-linked chronic granulomatous disease, Mendelian susceptibility to mycobacterial disease, macrophages, respiratory burst, monocyte-derived macrophages, germline mutations, X-linked recessive inheritance
- MeSH terms
- NADPH Oxidase 2, Animals, Cricetulus, Cricetinae, Humans, Macrophages, Male, Membrane Glycoproteins, Mutation, Tuberculosis, CHO Cells, NADPH Oxidases, Genetic Predisposition to Disease, Genes, X-Linked
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