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dc.contributor.authorBustamante, Jacinta
dc.contributor.authorArias, Andres A.
dc.contributor.authorVogt, Guillaume
dc.contributor.authorPicard, Capucine
dc.contributor.authorGalicia, Lizbeth Blancas
dc.contributor.authorPrando, Carolina
dc.contributor.authorGrant, Audrey V.
dc.contributor.authorMarchal, Christophe C.
dc.contributor.authorHubeau, Marjorie
dc.contributor.authorChapgier, Ariane
dc.contributor.authorde Beaucoudrey, Ludovic
dc.contributor.authorPuel, Anne
dc.contributor.authorFeinberg, Jacqueline
dc.contributor.authorValinetz, Ethan
dc.contributor.authorJanniere, Lucile
dc.contributor.authorBesse, Celine
dc.contributor.authorBoland, Anne
dc.contributor.authorBrisseau, Jean-Marie
dc.contributor.authorBlanche, Stephane
dc.contributor.authorLortholary, Olivier
dc.contributor.authorFieschi, Claire
dc.contributor.authorEmile, Jean-Francois
dc.contributor.authorBoisson-Dupuis, Stephanie
dc.contributor.authorAl-Muhsen, Saleh
dc.contributor.authorWoda, Bruce A.
dc.contributor.authorNewburger, Peter E.
dc.contributor.authorCondino-Neto, Antonio
dc.contributor.authorDinauer, Mary C.
dc.contributor.authorAbel, Laurent
dc.contributor.authorCasanova, Jean-Laurent
dc.date2022-08-11T08:10:10.000
dc.date.accessioned2022-08-23T16:58:16Z
dc.date.available2022-08-23T16:58:16Z
dc.date.issued2011-03-01
dc.date.submitted2012-04-25
dc.identifier.citationNat 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.issn1529-2908 (Linking)
dc.identifier.doi10.1038/ni.1992
dc.identifier.pmid21278736
dc.identifier.urihttp://hdl.handle.net/20.500.14038/43332
dc.description.abstractGermline 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.isoen_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.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097900/pdf/nihms292368.pdf
dc.subjectAnimals
dc.subjectCHO Cells
dc.subjectCricetinae
dc.subjectCricetulus
dc.subject*Genes, X-Linked
dc.subject*Genetic Predisposition to Disease
dc.subjectHumans
dc.subjectMacrophages
dc.subjectMale
dc.subjectMembrane Glycoproteins
dc.subjectMutation
dc.subjectNADPH Oxidase
dc.subjectTuberculosis
dc.subjectBacterial Infections and Mycoses
dc.subjectHematology
dc.subjectOncology
dc.subjectPediatrics
dc.titleGermline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
dc.typeJournal Article
dc.source.journaltitleNature immunology
dc.source.volume12
dc.source.issue3
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/peds_hematology/134
dc.identifier.contextkey2796625
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.submissionpathpeds_hematology/134
dc.contributor.departmentDepartment of Pathology
dc.contributor.departmentDepartment of Pediatrics
dc.source.pages213-21


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