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Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
Open accessAbstract
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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Self-citationSavina, A., Jancic, C. C., Hugues, S., Guermonprez, P., Vargas, P., Moura, I. C., Lennon‐Duménil, A., Seabra, M. C., Raposo, G., & Amigorena, S. (2006) · Cell · doi:10.1016/j.cell.2006.05.035 · Cited by 896
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The Immune Response in Tuberculosis
O’Garra, A., Redford, P. S., McNab, F. W., Bloom, C. I., Wilkinson, R. J., & Berry, M. P. R. (2013) · Annual Review of Immunology · doi:10.1146/annurev-immunol-032712-095939 · Cited by 1,400
Macrophage defense mechanisms against intracellular bacteria
Weiss, G., & Schaible, U. E. (2015) · Immunological Reviews · doi:10.1111/imr.12266 · Cited by 989
Bustamante, J. C., Boisson‐Dupuis, S., Abel, L., & Casanova, J. (2014) · Seminars in Immunology · doi:10.1016/j.smim.2014.09.008 · Cited by 705
Self-citationInterferon-inducible effector mechanisms in cell-autonomous immunity
MacMicking, J. D. (2012) · Nature reviews. Immunology · doi:10.1038/nri3210 · Cited by 588
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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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