Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
dc.contributor.author | Bustamante, Jacinta | |
dc.contributor.author | Arias, Andres A. | |
dc.contributor.author | Vogt, Guillaume | |
dc.contributor.author | Picard, Capucine | |
dc.contributor.author | Galicia, Lizbeth Blancas | |
dc.contributor.author | Prando, Carolina | |
dc.contributor.author | Grant, Audrey V. | |
dc.contributor.author | Marchal, Christophe C. | |
dc.contributor.author | Hubeau, Marjorie | |
dc.contributor.author | Chapgier, Ariane | |
dc.contributor.author | de Beaucoudrey, Ludovic | |
dc.contributor.author | Puel, Anne | |
dc.contributor.author | Feinberg, Jacqueline | |
dc.contributor.author | Valinetz, Ethan | |
dc.contributor.author | Janniere, Lucile | |
dc.contributor.author | Besse, Celine | |
dc.contributor.author | Boland, Anne | |
dc.contributor.author | Brisseau, Jean-Marie | |
dc.contributor.author | Blanche, Stephane | |
dc.contributor.author | Lortholary, Olivier | |
dc.contributor.author | Fieschi, Claire | |
dc.contributor.author | Emile, Jean-Francois | |
dc.contributor.author | Boisson-Dupuis, Stephanie | |
dc.contributor.author | Al-Muhsen, Saleh | |
dc.contributor.author | Woda, Bruce A. | |
dc.contributor.author | Newburger, Peter E. | |
dc.contributor.author | Condino-Neto, Antonio | |
dc.contributor.author | Dinauer, Mary C. | |
dc.contributor.author | Abel, Laurent | |
dc.contributor.author | Casanova, Jean-Laurent | |
dc.date | 2022-08-11T08:10:10.000 | |
dc.date.accessioned | 2022-08-23T16:58:16Z | |
dc.date.available | 2022-08-23T16:58:16Z | |
dc.date.issued | 2011-03-01 | |
dc.date.submitted | 2012-04-25 | |
dc.identifier.citation | Nat Immunol. 2011 Mar;12(3):213-21. Epub 2011 Jan 30. <a href="http://dx.doi.org/10.1038/ni.1992">Link to article on publisher's website</a> | |
dc.identifier.issn | 1529-2908 (Linking) | |
dc.identifier.doi | 10.1038/ni.1992 | |
dc.identifier.pmid | 21278736 | |
dc.identifier.uri | http://hdl.handle.net/20.500.14038/43332 | |
dc.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. | |
dc.language.iso | en_US | |
dc.relation | <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21278736&dopt=Abstract">Link to article in PubMed</a> | |
dc.relation.url | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097900/pdf/nihms292368.pdf | |
dc.subject | Animals | |
dc.subject | CHO Cells | |
dc.subject | Cricetinae | |
dc.subject | Cricetulus | |
dc.subject | *Genes, X-Linked | |
dc.subject | *Genetic Predisposition to Disease | |
dc.subject | Humans | |
dc.subject | Macrophages | |
dc.subject | Male | |
dc.subject | Membrane Glycoproteins | |
dc.subject | Mutation | |
dc.subject | NADPH Oxidase | |
dc.subject | Tuberculosis | |
dc.subject | Bacterial Infections and Mycoses | |
dc.subject | Hematology | |
dc.subject | Oncology | |
dc.subject | Pediatrics | |
dc.title | Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease | |
dc.type | Journal Article | |
dc.source.journaltitle | Nature immunology | |
dc.source.volume | 12 | |
dc.source.issue | 3 | |
dc.identifier.legacycoverpage | https://escholarship.umassmed.edu/peds_hematology/134 | |
dc.identifier.contextkey | 2796625 | |
html.description.abstract | <p>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.</p> | |
dc.identifier.submissionpath | peds_hematology/134 | |
dc.contributor.department | Department of Pathology | |
dc.contributor.department | Department of Pediatrics | |
dc.source.pages | 213-21 |