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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
Nature Immunology, Volume 12, No. 3, Year 2011
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Description
Germline mutations in CYBB, the human gene encoding the gp91phox 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. © 2011 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Bustamante, Jacinta Cecilia
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Arias, Andrés Augusto
United States, Indianapolis
Indiana University School of Medicine
Vogt, Guillaume
United States, New York
Rockefeller University
Pïcard, Capucine
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
France, Paris
Hôpital Necker Enfants Malades
Blancas-Galicia, Lizbeth
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Mexico, Mexico
Instituto Nacional de Pediatría
Prando, Carolina Cardoso De Mello
United States, New York
Rockefeller University
Grant, Audrey Virginia
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Marchal, Christophe C.
United States, Indianapolis
Indiana University School of Medicine
Hubeau, Marjorie
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Chapgier, Ariane L.A.
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
de Beaucoudrey, Ludovic
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Puel, Anne
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Feinberg, Jacqueline
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Valinetz, Ethan
United States, Indianapolis
Indiana University School of Medicine
Jannière, Lucile
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
Besse, Céline
France, Evry
Centre National de Recherche en Génomique Humaine
Boland, Anne
France, Evry
Centre National de Recherche en Génomique Humaine
Brisseau, Jean Marie
France, Nantes
Nantes Hospital
Blanche, Stéphane
France, Paris
Hôpital Necker Enfants Malades
Lortholary, Olivier
France, Paris
Hôpital Necker Enfants Malades
Fieschi, Claire
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
France, Paris
Hôpital Saint-louis
Émile, Jean François J.F.
France, Versailles
Université de Versailles Saint-quentin-en-yvelines
Boisson-Dupuis, Stéphanie
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
United States, New York
Rockefeller University
Al-Muhsen, Saleh Zaid
Saudi Arabia, Riyadh
King Saud University
Woda, Bruce
United States, Worcester
University of Massachusetts Chan Medical School
Newburger, Peter E.
United States, Worcester
University of Massachusetts Chan Medical School
Condino‑Neto, Antonio A.
Brazil, Sao Paulo
Universidade de São Paulo
Dinauer, Mary C.
United States, Indianapolis
Indiana University School of Medicine
Abel, Laurent
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
United States, New York
Rockefeller University
Casanova, Jean Laurent
France, Paris
L'institut Des Maladies Génétiques Imagine
France, Paris
Université Paris Cité
United States, New York
Rockefeller University
France, Paris
Hôpital Necker Enfants Malades
Saudi Arabia, Riyadh
King Saud University
Statistics
Citations: 246
Authors: 30
Affiliations: 13
Identifiers
Doi:
10.1038/ni.1992
ISSN:
15292908
e-ISSN:
15292916
Research Areas
Cancer
Genetics And Genomics
Study Approach
Quantitative
Participants Gender
Male