Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
ABSTRACT: 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...
- Autores:
-
Arias Sierra, Andrés Augusto
Bustamante, Jacinta
Vogt, Guillaume
Picard, Capucine
Blancas Galicia, Lizbeth
Prando Andrade, Carolina
Virginia Grant, Audrey
Marchal, Christophe C
Hubeau, Marjorie
Chapgier, Ariane
de Beaucoudrey, Ludovic
Puel, Anne
Feinberg, Jacqueline
Valinetz, Ethan
Jannière, Lucile
Besse, Céline
Boland, Anne
Brisseau, Jean Marie
Blanche, Stéphane
Lortholary, Olivier
Fieschi, Claire
Emile, Jean François
Boisson Dupuis, Stéphanie
Al-Muhsen, Saleh
Woda, Bruce
Newburger, Peter E.
Condino Neto, Antonio
Dinauer, Mary C.
Abel, Laurent
Casanova, Jean Laurent
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2011
- Institución:
- Universidad de Antioquia
- Repositorio:
- Repositorio UdeA
- Idioma:
- eng
- OAI Identifier:
- oai:bibliotecadigital.udea.edu.co:10495/36591
- Acceso en línea:
- https://hdl.handle.net/10495/36591
- Palabra clave:
- Células CHO
CHO Cells
Cricetinae
Tuberculosis Ganglionar
Tuberculosis, Lymph Node
Genes Ligados a X
Genes, X-Linked
Macrófagos
Macrophages
Glicoproteínas de Membrana
Membrane Glycoproteins
NADPH Oxidasa 2
NADPH Oxidase 2
Tuberculosis
- Rights
- openAccess
- License
- http://creativecommons.org/licenses/by/2.5/co/
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| dc.title.spa.fl_str_mv |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease |
| title |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease |
| spellingShingle |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease Células CHO CHO Cells Cricetinae Tuberculosis Ganglionar Tuberculosis, Lymph Node Genes Ligados a X Genes, X-Linked Macrófagos Macrophages Glicoproteínas de Membrana Membrane Glycoproteins NADPH Oxidasa 2 NADPH Oxidase 2 Tuberculosis |
| title_short |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease |
| title_full |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease |
| title_fullStr |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease |
| title_full_unstemmed |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease |
| title_sort |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease |
| dc.creator.fl_str_mv |
Arias Sierra, Andrés Augusto Bustamante, Jacinta Vogt, Guillaume Picard, Capucine Blancas Galicia, Lizbeth Prando Andrade, Carolina Virginia Grant, Audrey Marchal, Christophe C Hubeau, Marjorie Chapgier, Ariane de Beaucoudrey, Ludovic Puel, Anne Feinberg, Jacqueline Valinetz, Ethan Jannière, Lucile Besse, Céline Boland, Anne Brisseau, Jean Marie Blanche, Stéphane Lortholary, Olivier Fieschi, Claire Emile, Jean François Boisson Dupuis, Stéphanie Al-Muhsen, Saleh Woda, Bruce Newburger, Peter E. Condino Neto, Antonio Dinauer, Mary C. Abel, Laurent Casanova, Jean Laurent |
| dc.contributor.author.none.fl_str_mv |
Arias Sierra, Andrés Augusto Bustamante, Jacinta Vogt, Guillaume Picard, Capucine Blancas Galicia, Lizbeth Prando Andrade, Carolina Virginia Grant, Audrey Marchal, Christophe C Hubeau, Marjorie Chapgier, Ariane de Beaucoudrey, Ludovic Puel, Anne Feinberg, Jacqueline Valinetz, Ethan Jannière, Lucile Besse, Céline Boland, Anne Brisseau, Jean Marie Blanche, Stéphane Lortholary, Olivier Fieschi, Claire Emile, Jean François Boisson Dupuis, Stéphanie Al-Muhsen, Saleh Woda, Bruce Newburger, Peter E. Condino Neto, Antonio Dinauer, Mary C. Abel, Laurent Casanova, Jean Laurent |
| dc.contributor.researchgroup.spa.fl_str_mv |
Inmunodeficiencias Primarias |
| dc.subject.decs.none.fl_str_mv |
Células CHO CHO Cells Cricetinae Tuberculosis Ganglionar Tuberculosis, Lymph Node Genes Ligados a X Genes, X-Linked Macrófagos Macrophages Glicoproteínas de Membrana Membrane Glycoproteins NADPH Oxidasa 2 NADPH Oxidase 2 Tuberculosis |
| topic |
Células CHO CHO Cells Cricetinae Tuberculosis Ganglionar Tuberculosis, Lymph Node Genes Ligados a X Genes, X-Linked Macrófagos Macrophages Glicoproteínas de Membrana Membrane Glycoproteins NADPH Oxidasa 2 NADPH Oxidase 2 Tuberculosis |
| description |
ABSTRACT: 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. |
| publishDate |
2011 |
| dc.date.issued.none.fl_str_mv |
2011 |
| dc.date.accessioned.none.fl_str_mv |
2023-09-07T14:43:37Z |
| dc.date.available.none.fl_str_mv |
2023-09-07T14:43:37Z |
| dc.type.spa.fl_str_mv |
Artículo de investigación |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.type.redcol.spa.fl_str_mv |
https://purl.org/redcol/resource_type/ART |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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publishedVersion |
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Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Jannière L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, Boisson-Dupuis S, Al-Muhsen S, Woda B, Newburger PE, Condino-Neto A, Dinauer MC, Abel L, Casanova JL. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30. PMID: 21278736; PMCID: PMC3097900. |
| dc.identifier.issn.none.fl_str_mv |
1529-2908 |
| dc.identifier.uri.none.fl_str_mv |
https://hdl.handle.net/10495/36591 |
| dc.identifier.doi.none.fl_str_mv |
10.1038/ni.1992 |
| dc.identifier.eissn.none.fl_str_mv |
1529-2916 |
| identifier_str_mv |
Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Jannière L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, Boisson-Dupuis S, Al-Muhsen S, Woda B, Newburger PE, Condino-Neto A, Dinauer MC, Abel L, Casanova JL. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30. PMID: 21278736; PMCID: PMC3097900. 1529-2908 10.1038/ni.1992 1529-2916 |
| url |
https://hdl.handle.net/10495/36591 |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.ispartofjournalabbrev.spa.fl_str_mv |
Nat. Immunol. |
| dc.relation.citationendpage.spa.fl_str_mv |
19 |
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3 |
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1 |
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12 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Nature Immunology |
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http://creativecommons.org/licenses/by/2.5/co/ |
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https://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Nature Research |
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Nueva York, Estados Unidos |
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Arias Sierra, Andrés AugustoBustamante, JacintaVogt, GuillaumePicard, CapucineBlancas Galicia, LizbethPrando Andrade, CarolinaVirginia Grant, AudreyMarchal, Christophe CHubeau, MarjorieChapgier, Arianede Beaucoudrey, LudovicPuel, AnneFeinberg, JacquelineValinetz, EthanJannière, LucileBesse, CélineBoland, AnneBrisseau, Jean MarieBlanche, StéphaneLortholary, OlivierFieschi, ClaireEmile, Jean FrançoisBoisson Dupuis, StéphanieAl-Muhsen, SalehWoda, BruceNewburger, Peter E.Condino Neto, AntonioDinauer, Mary C.Abel, LaurentCasanova, Jean LaurentInmunodeficiencias Primarias2023-09-07T14:43:37Z2023-09-07T14:43:37Z2011Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Jannière L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, Boisson-Dupuis S, Al-Muhsen S, Woda B, Newburger PE, Condino-Neto A, Dinauer MC, Abel L, Casanova JL. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30. PMID: 21278736; PMCID: PMC3097900.1529-2908https://hdl.handle.net/10495/3659110.1038/ni.19921529-2916ABSTRACT: 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.COL001242619application/pdfengNature ResearchNueva York, Estados Unidoshttp://creativecommons.org/licenses/by/2.5/co/https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial diseaseArtículo de investigaciónhttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARThttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionCélulas CHOCHO CellsCricetinaeTuberculosis GanglionarTuberculosis, Lymph NodeGenes Ligados a XGenes, X-LinkedMacrófagosMacrophagesGlicoproteínas de MembranaMembrane GlycoproteinsNADPH Oxidasa 2NADPH Oxidase 2TuberculosisNat. 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