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...

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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/