Tuberculosis in otherwise healthy adults with inherited TNF deficiency

Arias Sierra, Andrés Augusto; Arango Franco, Carlos Andrés; Franco Restrepo, José Luis; Orrego Arango, Julio César; Rojas Silva, Julián; Erazo Borrás, Lucía Victoria; Moncada Vélez, Marcela; Carmona Ramírez, María Camila; Obando Gil, Catalina; Álvarez Álvarez, Jesús Armando; Sánchez Correa, Juan Pablo; Tejada Giraldo, Manuela; Agudelo Agudelo, María Lucía; Pérez Zapata, Lizet Jazmin; Arboleda Sepúlveda, Diana Marcela; Cataño Correa, Juan Carlos; Alzate Restrepo, Juan Fernando; Cabarcas Jaramillo, Felipe; Velásquez Lopera, Margarita María; Neehus, Anna Lena; Ogishi, Masato; Meynier, Vincent; Krebs, Adam; Lazarov, Tomi; Lee, Angela M.; Yang, Rui; Corcini Berndt, Melissa; Li, Hailun; Rinchai, Darawan; Eun Han, Ji; Pillay, Bethany; Ponsin, Khoren; Chaldebas, Matthieu; Philippot, Quentin; Bohlen, Jonathan; Rosain, Jérémie; Voyer, Tom Le; Till, Janotte; Amarajeeva, Krishnajina; Soudée, Camille; Brollo, Marion; Wiegmann, Katja; Marquant, Quentin; Seeleuthner, Yoann; Lee, Danyel; Lainé, Candice; Kloos, Doreen; Bailey, Rasheed; Bastard, Paul; Keating, Narelle; Rapaport, Franck; Khan, Taushif; Martínez Rosado, Larry Luber; L'Honneur, Anne Sophie; Zuluaga Rodríguez, Alejandra; Pelham, Simon J.; Ensser, Armin; Schmidt, Monika; Jouanguy, Emmanuelle; Puel, Anne; Krönke, Martin; Ghirardello, Stefano; Borghesi, Alessandro; Pahari, Susanta; Boisson, Bertrand; Pittaluga, Stefania; Ma, Cindy S.; Emile, Jean François; Notarangelo, Luigi D.; Tangye, Stuart G.; Marr, Nico; Lachmann, Nico; Salvator, Hélène; Schlesinger, Larry S.; Zhang, Peng; Glickman, Michael S.; Nathan, Carl F.; Geissmann, Frédéric; Abel, Laurent; Bustamante, Jacinta; Casanova, Jean Laurent; Boisson Dupuis, Stéphanie

Artículos de Revista en Ciencias Médicas · 2024

Tuberculosis in otherwise healthy adults with inherited TNF deficiency

Arias Sierra, Andrés Augusto · Arango Franco, Carlos Andrés · Franco Restrepo, José Luis · Orrego Arango, Julio César · Rojas Silva, Julián · Erazo Borrás, Lucía Victoria · Moncada Vélez, Marcela · Carmona Ramírez, María Camila · Obando Gil, Catalina · Álvarez Álvarez, Jesús Armando · Sánchez Correa, Juan Pablo · Tejada Giraldo, Manuela · Agudelo Agudelo, María Lucía · Pérez Zapata, Lizet Jazmin · Arboleda Sepúlveda, Diana Marcela · Cataño Correa, Juan Carlos · Alzate Restrepo, Juan Fernando · Cabarcas Jaramillo, Felipe · Velásquez Lopera, Margarita María · Neehus, Anna Lena · Ogishi, Masato · Meynier, Vincent · Krebs, Adam · Lazarov, Tomi · Lee, Angela M. · Yang, Rui · Corcini Berndt, Melissa · Li, Hailun · Rinchai, Darawan · Eun Han, Ji · Pillay, Bethany · Ponsin, Khoren · Chaldebas, Matthieu · Philippot, Quentin · Bohlen, Jonathan · Rosain, Jérémie · Voyer, Tom Le · Till, Janotte · Amarajeeva, Krishnajina · Soudée, Camille · Brollo, Marion · Wiegmann, Katja · Marquant, Quentin · Seeleuthner, Yoann · Lee, Danyel · Lainé, Candice · Kloos, Doreen · Bailey, Rasheed · Bastard, Paul · Keating, Narelle · Rapaport, Franck · Khan, Taushif · Martínez Rosado, Larry Luber · L'Honneur, Anne Sophie · Zuluaga Rodríguez, Alejandra · Pelham, Simon J. · Ensser, Armin · Schmidt, Monika · Jouanguy, Emmanuelle · Puel, Anne · Krönke, Martin · Ghirardello, Stefano · Borghesi, Alessandro · Pahari, Susanta · Boisson, Bertrand · Pittaluga, Stefania · Ma, Cindy S. · Emile, Jean François · Notarangelo, Luigi D. · Tangye, Stuart G. · Marr, Nico · Lachmann, Nico · Salvator, Hélène · Schlesinger, Larry S. · Zhang, Peng · Glickman, Michael S. · Nathan, Carl F. · Geissmann, Frédéric · Abel, Laurent · Bustamante, Jacinta · Casanova, Jean Laurent · Boisson Dupuis, Stéphanie

Severe defects in human IFNγ immunity predispose individuals to both Bacillus Calmette–Guérin disease and tuberculosis, whereas milder defects predispose only to tuberculosis. Here we report two adults with recurrent pulmonary tuberculosis who are homozygous for a private loss-of-function TNF variant. Neither has any other clinical phenotype and both mount normal clinical and biological inflammatory responses. Their leukocytes, including monocytes and monocyte-derived macrophages (MDMs) do not produce TNF, even after stimulation with IFNγ. Blood leukocyte subset development is normal in these patients. However, an impairment in the respiratory burst was observed in granulocyte–macrophage colony-stimulating factor (GM-CSF)-matured MDMs and alveolar macrophage-like (AML) cells from both patients with TNF deficiency, TNF- or TNFR1-deficient induced pluripotent stem (iPS)-cell-derived GM-CSF-matured macrophages, and healthy control MDMs and AML cells differentiated with TNF blockers in vitro, and in lung macrophages treated with TNF blockers ex vivo. The stimulation of TNF-deficient iPS-cell-derived macrophages with TNF rescued the respiratory burst. Human TNF is required for respiratory-burst-dependent immunity to Mycobacterium tuberculosis in macrophages but is surprisingly redundant otherwise, including for inflammation and immunity to weakly virulent mycobacteria and many other infectious agents.

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APA 7

Arias Sierra, A. A., Arango Franco, C. A., Franco Restrepo, J. L., Orrego Arango, J. C., Rojas Silva, J., Erazo Borrás, L. V., Moncada Vélez, M., Carmona Ramírez, M. C., Obando Gil, C., Álvarez Álvarez, J. A., Sánchez Correa, J. P., Tejada Giraldo, M., Agudelo Agudelo, M. L., Pérez Zapata, L. J., Arboleda Sepúlveda, D. M., Cataño Correa, J. C., Alzate Restrepo, J. F., Cabarcas Jaramillo, F., Velásquez Lopera, M. M., y Neehus, A. L. (2024). Tuberculosis in otherwise healthy adults with inherited TNF deficiency. Universidad de Antioquia. https://hdl.handle.net/10495/50712

ICONTEC

ARIAS SIERRA, Andrés Augusto, et al. Tuberculosis in otherwise healthy adults with inherited TNF deficiency. Londres, Inglaterra: Universidad de Antioquia, 2024. 28 p. Disponible en: https://hdl.handle.net/10495/50712

BibTeX

@techreport{arias2024,
  author = {Arias Sierra, Andrés Augusto and Arango Franco, Carlos Andrés and Franco Restrepo, José Luis and Orrego Arango, Julio César and Rojas Silva, Julián and Erazo Borrás, Lucía Victoria and Moncada Vélez, Marcela and Carmona Ramírez, María Camila and Obando Gil, Catalina and Álvarez Álvarez, Jesús Armando and Sánchez Correa, Juan Pablo and Tejada Giraldo, Manuela and Agudelo Agudelo, María Lucía and Pérez Zapata, Lizet Jazmin and Arboleda Sepúlveda, Diana Marcela and Cataño Correa, Juan Carlos and Alzate Restrepo, Juan Fernando and Cabarcas Jaramillo, Felipe and Velásquez Lopera, Margarita María and Neehus, Anna Lena and Ogishi, Masato and Meynier, Vincent and Krebs, Adam and Lazarov, Tomi and Lee, Angela M. and Yang, Rui and Corcini Berndt, Melissa and Li, Hailun and Rinchai, Darawan and Eun Han, Ji and Pillay, Bethany and Ponsin, Khoren and Chaldebas, Matthieu and Philippot, Quentin and Bohlen, Jonathan and Rosain, Jérémie and Voyer, Tom Le and Till, Janotte and Amarajeeva, Krishnajina and Soudée, Camille and Brollo, Marion and Wiegmann, Katja and Marquant, Quentin and Seeleuthner, Yoann and Lee, Danyel and Lainé, Candice and Kloos, Doreen and Bailey, Rasheed and Bastard, Paul and Keating, Narelle and Rapaport, Franck and Khan, Taushif and Martínez Rosado, Larry Luber and L'Honneur, Anne Sophie and Zuluaga Rodríguez, Alejandra and Pelham, Simon J. and Ensser, Armin and Schmidt, Monika and Jouanguy, Emmanuelle and Puel, Anne and Krönke, Martin and Ghirardello, Stefano and Borghesi, Alessandro and Pahari, Susanta and Boisson, Bertrand and Pittaluga, Stefania and Ma, Cindy S. and Emile, Jean François and Notarangelo, Luigi D. and Tangye, Stuart G. and Marr, Nico and Lachmann, Nico and Salvator, Hélène and Schlesinger, Larry S. and Zhang, Peng and Glickman, Michael S. and Nathan, Carl F. and Geissmann, Frédéric and Abel, Laurent and Bustamante, Jacinta and Casanova, Jean Laurent and Boisson Dupuis, Stéphanie},
  title = {{Tuberculosis in otherwise healthy adults with inherited TNF deficiency}},
  publisher = {Universidad de Antioquia},
  year = {2024},
  url = {https://hdl.handle.net/10495/50712}
}

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