Jacinta Bustamante

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 52

Top Topics

Prognostic Factors

Immune Response

Dendritic Cells

Ejection Fraction

Top Venues

The Journal of experimental medicine

Science (New York, N.Y.)

Science immunology

Journal of clinical immunology

This page only lists publications with an associated author ORCID identifier.

Publications

Romane Thouenon, Loïc Chentout, Nidia Carolina Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Bénédicte Hoareau-Coudert, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André-Schmutz, Marina Cavazzana, Anne Durandy, Jean Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency. The Journal of experimental medicine 220 (6) (2023)
Romane Thouenon, Loïc Chentout, Nidia Carolina Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Bénédicte Hoareau-Coudert, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André-Schmutz, Marina Cavazzana, Anne Durandy, Jean Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency. The Journal of experimental medicine 220 (6) (2023)
Romane Thouenon, Loïc Chentout, Nidia Carolina Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Bénédicte Hoareau-Coudert, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André-Schmutz, Marina Cavazzana, Anne Durandy, Jean Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency. The Journal of experimental medicine 220 (6) (2023)
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés Augusto Arias, Tina Nguyen, Marta Martín-Fernández, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mahdaviani, Mohammad Keramatipour, Jérémie Rosain, Jean-Laurent Casanova, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A Arango-Franco, Simon J Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Mélanie Migaud, Camille Soudée, Tatiana Kochetkov, Anne Molitor, Raphaël Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurélie Cobat, Roosheel S Patel, Laurent Abel, Stuart G Tangye, Cindy S Ma, Vivien Béziat, Federica Sallusto, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean Laurent Casanova, Anne Puel
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Science immunology 8 (80) (2023)
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan-García, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Wei-Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant M Mane, Carlos Flores, Yu Zhang, Andrés Augusto Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jérémie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R Weiss, Damien Bonnet, Xavier Duval, null null, null null, Qiang Pan-Hammarström, Anna M Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Sancho-Shimizu Vanessa, Clifford L Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Daniele Notarangelo, Vivien Béziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C Su, Richard P Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M Rice, Robert H Silverman, Shen-Ying Zhang, Jean Laurent Casanova
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.) 379 (6632) (2023)
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan-García, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Wei-Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant M Mane, Carlos Flores, Yu Zhang, Andrés Augusto Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jérémie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R Weiss, Damien Bonnet, Xavier Duval, null null, null null, Qiang Pan-Hammarström, Anna M Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Sancho-Shimizu Vanessa, Clifford L Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Daniele Notarangelo, Vivien Béziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C Su, Richard P Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M Rice, Robert H Silverman, Shen-Ying Zhang, Jean Laurent Casanova
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.) 379 (6632) (2023)
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan-García, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Wei-Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant M Mane, Carlos Flores, Yu Zhang, Andrés Augusto Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jérémie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R Weiss, Damien Bonnet, Xavier Duval, null null, null null, Qiang Pan-Hammarström, Anna M Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Sancho-Shimizu Vanessa, Clifford L Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Daniele Notarangelo, Vivien Béziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C Su, Richard P Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M Rice, Robert H Silverman, Shen-Ying Zhang, Jean Laurent Casanova
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.) 379 (6632) (2023)
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan-García, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Wei-Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant M Mane, Carlos Flores, Yu Zhang, Andrés Augusto Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jérémie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R Weiss, Damien Bonnet, Xavier Duval, null null, null null, Qiang Pan-Hammarström, Anna M Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Sancho-Shimizu Vanessa, Clifford L Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Daniele Notarangelo, Vivien Béziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C Su, Richard P Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M Rice, Robert H Silverman, Shen-Ying Zhang, Jean Laurent Casanova
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.) 379 (6632) (2023)
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés Augusto Arias, Tina Nguyen, Marta Martín-Fernández, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mahdaviani, Mohammad Keramatipour, Jérémie Rosain, Jean-Laurent Casanova, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A Arango-Franco, Simon J Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Mélanie Migaud, Camille Soudée, Tatiana Kochetkov, Anne Molitor, Raphaël Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurélie Cobat, Roosheel S Patel, Laurent Abel, Stuart G Tangye, Cindy S Ma, Vivien Béziat, Federica Sallusto, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean Laurent Casanova, Anne Puel
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Science immunology 8 (80) (2023)
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés Augusto Arias, Tina Nguyen, Marta Martín-Fernández, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mahdaviani, Mohammad Keramatipour, Jérémie Rosain, Jean-Laurent Casanova, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A Arango-Franco, Simon J Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Mélanie Migaud, Camille Soudée, Tatiana Kochetkov, Anne Molitor, Raphaël Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurélie Cobat, Roosheel S Patel, Laurent Abel, Stuart G Tangye, Cindy S Ma, Vivien Béziat, Federica Sallusto, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean Laurent Casanova, Anne Puel
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Science immunology 8 (80) (2023)
Romane Thouenon, Loïc Chentout, Nidia Carolina Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Bénédicte Hoareau-Coudert, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André-Schmutz, Marina Cavazzana, Anne Durandy, Jean Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency. The Journal of experimental medicine 220 (6) (2023)
Ana Karen Peñafiel-Vicuña, Rogelio Coyata-Guzmán, Anelena González Reynoso, Adolfo Gonzalo Palma-Chan, Ricardo Baeza-Bastarrachea, Sherel A García-Ruelas, Ángeles Costta-Michuy, Cielo Razo-Requena, Ximena León-Lara, Eduardo Liquidano-Pérez, Francisco Espinosa-Rosales, Jacinta Bustamante, Lizbeth Blancas-Galicia
[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases.] Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 69 (4) (2023)
Anna-Lena Neehus, Mathieu Fusaro, null null, Romain Lévy, Jacinta Bustamante
A New Patient with p40 phox Deficiency and Chronic Immune Thrombocytopenia. Journal of clinical immunology (2023)
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés Augusto Arias, Tina Nguyen, Marta Martín-Fernández, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mahdaviani, Mohammad Keramatipour, Jérémie Rosain, Jean-Laurent Casanova, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A Arango-Franco, Simon J Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Mélanie Migaud, Camille Soudée, Tatiana Kochetkov, Anne Molitor, Raphaël Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurélie Cobat, Roosheel S Patel, Laurent Abel, Stuart G Tangye, Cindy S Ma, Vivien Béziat, Federica Sallusto, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean Laurent Casanova, Anne Puel
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Science immunology 8 (80) (2023)
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés Augusto Arias, Tina Nguyen, Marta Martín-Fernández, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mahdaviani, Mohammad Keramatipour, Jérémie Rosain, Jean-Laurent Casanova, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A Arango-Franco, Simon J Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Mélanie Migaud, Camille Soudée, Tatiana Kochetkov, Anne Molitor, Raphaël Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurélie Cobat, Roosheel S Patel, Laurent Abel, Stuart G Tangye, Cindy S Ma, Vivien Béziat, Federica Sallusto, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean Laurent Casanova, Anne Puel
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Science immunology 8 (80) (2023)
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan-García, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Wei-Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant M Mane, Carlos Flores, Yu Zhang, Andrés Augusto Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jérémie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R Weiss, Damien Bonnet, Xavier Duval, null null, null null, Qiang Pan-Hammarström, Anna M Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Sancho-Shimizu Vanessa, Clifford L Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Daniele Notarangelo, Vivien Béziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C Su, Richard P Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M Rice, Robert H Silverman, Shen-Ying Zhang, Jean Laurent Casanova
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.) 379 (6632) (2023)
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan-García, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Wei-Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant M Mane, Carlos Flores, Yu Zhang, Andrés Augusto Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jérémie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R Weiss, Damien Bonnet, Xavier Duval, null null, null null, Qiang Pan-Hammarström, Anna M Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Sancho-Shimizu Vanessa, Clifford L Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Daniele Notarangelo, Vivien Béziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C Su, Richard P Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M Rice, Robert H Silverman, Shen-Ying Zhang, Jean Laurent Casanova
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.) 379 (6632) (2023)
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan-García, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Wei-Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant M Mane, Carlos Flores, Yu Zhang, Andrés Augusto Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jérémie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R Weiss, Damien Bonnet, Xavier Duval, null null, null null, Qiang Pan-Hammarström, Anna M Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Sancho-Shimizu Vanessa, Clifford L Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Daniele Notarangelo, Vivien Béziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C Su, Richard P Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M Rice, Robert H Silverman, Shen-Ying Zhang, Jean Laurent Casanova
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.) 379 (6632) (2023)
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés Augusto Arias, Tina Nguyen, Marta Martín-Fernández, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mahdaviani, Mohammad Keramatipour, Jérémie Rosain, Jean-Laurent Casanova, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A Arango-Franco, Simon J Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Mélanie Migaud, Camille Soudée, Tatiana Kochetkov, Anne Molitor, Raphaël Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurélie Cobat, Roosheel S Patel, Laurent Abel, Stuart G Tangye, Cindy S Ma, Vivien Béziat, Federica Sallusto, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean Laurent Casanova, Anne Puel
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Science immunology 8 (80) (2023)
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés Augusto Arias, Tina Nguyen, Marta Martín-Fernández, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mahdaviani, Mohammad Keramatipour, Jérémie Rosain, Jean-Laurent Casanova, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A Arango-Franco, Simon J Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Mélanie Migaud, Camille Soudée, Tatiana Kochetkov, Anne Molitor, Raphaël Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurélie Cobat, Roosheel S Patel, Laurent Abel, Stuart G Tangye, Cindy S Ma, Vivien Béziat, Federica Sallusto, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean Laurent Casanova, Anne Puel
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Science immunology 8 (80) (2023)
Romane Thouenon, Loïc Chentout, Nidia Carolina Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Bénédicte Hoareau-Coudert, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André-Schmutz, Marina Cavazzana, Anne Durandy, Jean Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency. The Journal of experimental medicine 220 (6) (2023)
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan-García, Şefika Elmas Bozdemir, Gülsüm İclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Wei-Te Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M Luna, Fabrice Jaffré, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant M Mane, Carlos Flores, Yu Zhang, Andrés Augusto Arias, Rasheed Bailey, Agatha Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jérémie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Antón, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Fumadó, Marta L DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Pérez Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R Weiss, Damien Bonnet, Xavier Duval, null null, null null, Qiang Pan-Hammarström, Anna M Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Sancho-Shimizu Vanessa, Clifford L Dalgard, Jacinta Bustamante, Anne Puel, Stéphanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Daniele Notarangelo, Vivien Béziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C Su, Richard P Lifton, Emmanuelle Jouanguy, Aurélie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M Rice, Robert H Silverman, Shen-Ying Zhang, Jean Laurent Casanova
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.) 379 (6632) (2023)
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andrés Augusto Arias, Tina Nguyen, Marta Martín-Fernández, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mahdaviani, Mohammad Keramatipour, Jérémie Rosain, Jean-Laurent Casanova, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A Arango-Franco, Simon J Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Mélanie Migaud, Camille Soudée, Tatiana Kochetkov, Anne Molitor, Raphaël Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurélie Cobat, Roosheel S Patel, Laurent Abel, Stuart G Tangye, Cindy S Ma, Vivien Béziat, Federica Sallusto, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jean Laurent Casanova, Anne Puel
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Science immunology 8 (80) (2023)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph B Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph B Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Masato Ogishi, Jean-Laurent Casanova, Rémy Rodriguez, Dominic P Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J Pelham, Andrés Augusto Arias, Taushif Khan, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Lainé, Wei-Te Lei, Ji Eun Han, Yoann Seeleuthner, Zenia Kaul, Emmanuelle Jouanguy, Vivien Béziat, Leila Youssefian, Hassan Vahidnezhad, V Koneti Rao, Bénédicte Neven, Claire Fieschi, Davood Mansouri, Mohammad Shahrooei, Sevgi Pekcan, Gülsüm Alkan, Melike Emiroğlu, Hüseyin Tokgöz, Jouni Uitto, Fabian Hauck, Jacinta Bustamante, Laurent Abel, Sevgi Keles, Nima Parvaneh, Nico Marr, Pamela L Schwartzberg, Sylvain Latour, Jean Laurent Casanova, Stéphanie Boisson-Dupuis
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis. The Journal of experimental medicine 220 (1) (2022)
Anne Puel, Paul Bastard, Jacinta Bustamante, Jean Laurent Casanova
Human autoantibodies underlying infectious diseases. The Journal of experimental medicine 219 (4) (2022)
Masato Ogishi, Andrés Augusto Arias, Jean-Laurent Casanova, Ji Eun Han, Peng Zhang, Darawan Rinchai, Joshua Halpern, Jeanette Mulwa, Narelle Keating, Maya Chrabieh, Candice Lainé, Yoann Seeleuthner, Noe Ramirez-Alejo, Nioosha Nekooie Marnany, Andrea Guennoun, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Sara Sebnem Kilic, Yoshiyuki Minegishi, Stephan Ehl, Petra Kaiser-Labusch, Yasemin Kendir Demirkol, Flore Rozenberg, Abderrahmane Errami, Shen-Ying Zhang, Qian Zhang, Jonathan Bohlen, Quentin Philippot, Anne Puel, Emmanuelle Jouanguy, Zahra Pourmoghaddas, Shahrzad Bakhtiar, Andre Manfred Willasch, Gerd Horneff, Genevieve Llanora, Lynette Pei-Chi Shek, Louis Yi Ann Chai, Sen Hee Tay, Hamid H Rahimi, Seyed Alireza Mahdaviani, Serdar Nepesov, Ahmed Aziz Bousfiha, Emine Hafize Erdeniz, Adem Karbuz, Nico Marr, Carmen Navarrete, Mehdi M Adeli, Lennart Hammarstrom, Hassan Abolhassani, Nima Parvaneh, Saleh Al Muhsen, Mohammed F Alosaimi, Fahad Alsohime, Maryam Nourizadeh, Mostafa Moin, Rand Arnaout, Saad Alshareef, Jamila E I Baghdadi, Ferah Genel, Roya Sherkat, Ayça Kiykim, Esra Ozek Yucel, Sevgi Keles, Jacinta Bustamante, Laurent Abel, Jean Laurent Casanova, Stéphanie Boisson-Dupuis
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency. The Journal of experimental medicine 219 (10) (2022)
Jean-Laurent Casanova, Danielle T Avery, Katherine J L Jackson, Masato Ogishi, Ibtihal Benhsaien, Likun Du, Xiaofei Ye, Jing Han, Jérémie Rosain, Jessica N Peel, Marie-Alexandra Alyanakian, Bénédicte Neven, Sarah Winter, Anne Puel, Bertrand Boisson, Kathryn J Payne, Melanie Wong, Amanda J Russell, Yoko Mizoguchi, Satoshi Okada, Gulbu Uzel, Christopher C Goodnow, Sylvain Latour, Jalila El Bakkouri, Ahmed Aziz Bousfiha, Kahn Preece, Paul E Gray, Baerbel Keller, Klaus Warnatz, Stéphanie Boisson-Dupuis, Laurent Abel, Qiang Pan-Hammarström, Jacinta Bustamante, Cindy S Ma, Jean Laurent Casanova, Stuart G Tangye
Human T-bet governs the generation of a distinct subset of CD11c high CD21 low B cells. Science immunology 7 (73) (2022)
Anna-Lena Neehus, Karen Tuano, Tom Le Voyer, Sarada L Nandiwada, Kruthi Murthy, Anne Puel, Jean-Laurent Casanova, Javier Chinen, Jacinta Bustamante
Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency. Journal of clinical immunology 42 (6) (2022)
Jérémie Rosain, Andrea Bernasconi, Emma Prieto, Lucia Caputi, Tom Le Voyer, Guadalupe Buda, Marcelo Marti, Jonathan Bohlen, Anna-Lena Neehus, Claudio Castaños, Rosario Gallagher, Karim Dorgham, Matias Oleastro, Laura Perez, Silvia Danielian, Jose Edgardo Dipierri, Jean Laurent Casanova, Jacinta Bustamante, Mariana Villa
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency. Journal of clinical immunology 42 (5) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph B Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph B Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Marta Martín-Fernández, Sofija Buta, Tom Le Voyer, Zhi Li, Lasse Toftdal Dynesen, Françoise Vuillier, Lina Franklin, Fatima Ailal, Alice M Amancio, Louise Malle, Conor Gruber, Ibtihal Benhsaien, Jennie Altman, Justin Taft, Caroline Deswarte, Manon Roynard, Alejandro Nieto-Patlán, Kunihiko Moriya, Jérémie Rosain, Nathalie Boddaert, Ahmed Aziz Bousfiha, Yanick J Crow, Dragana Jankovic, Alan Sher, Jean Laurent Casanova, Sandra Pellegrini, Jacinta Bustamante, Dusan Bogunovic
A partial form of inherited human USP18 deficiency underlies infection and inflammation. The Journal of experimental medicine 219 (4) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph B Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
Romain Levy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian Simon Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Barış, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Ahmed Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Çağdaş Ayvaz, Roshini S Abraham, Alan P Knutsen, Børre Fevang, Sagar Bhattad, Ayça Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Ünal, Ashish R Kumar, Christoph B Geier, Ulrich Baumann, Bénédicte Neven, null null, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean Laurent Casanova, Fabian Hauck, Vivien Béziat
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. The Journal of experimental medicine 220 (2) (2022)
András N Spaan, Anna-Lena Neehus, Emmanuel Laplantine, Frederik Staels, Masato Ogishi, Yoann Seeleuthner, Franck Rapaport, Keenan A Lacey, Erika Van Nieuwenhove, Maya Chrabieh, David Hum, Mélanie Migaud, Araksya Izmiryan, Lazaro Lorenzo, Tatiana Kochetkov, Dani A C Heesterbeek, Bart W Bardoel, Ashley L DuMont, A Kerry Dobbs, Solenne Chardonnet, Søren Heissel, Timour Baslan, Peng Zhang, Jean-Laurent Casanova, Dusan Bogunovic, Herman F Wunderink, Pieter-Jan A Haas, Henrik Molina, Griet Van Buggenhout, Stanislas Lyonnet, Luigi Daniele Notarangelo, Mikko R J Seppänen, Robert Weil, Gisela Seminario, Héctor Gomez-Tello, Carine Wouters, Mehrnaz Mesdaghi, Mohammad Shahrooei, Xavier Bossuyt, Erdal Sağ, Rezan Topaloğlu, Seher Sener, Helen L Leavis, Maarten M J van Eijk, Liliana Bezrodnik, Lizbeth Blancas-Galicia, Alain Hovnanian, Aude Nassif, Brigitte Bader-Meunier, Bénédicte Neven, Isabelle Meyts, Rik Schrijvers, Anne Puel, Jacinta Bustamante, Ivona Aksentijevich, Daniel L Kastner, Victor J Torres, Stephanie Humblet-Baron, Adrian Liston, Laurent Abel, Bertrand Boisson, Jean Laurent Casanova
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin. Science (New York, N.Y.) 376 (6599) (2022)
Franck Rapaport, Bertrand Boisson, Anne Gregor, Vivien Béziat, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Emmanuelle Jouanguy, Anne Puel, Jérémie Rosain, Qian Zhang, Shen-Ying Zhang, Joseph G Gleeson, Lluis Quintana-Murci, Jean-Laurent Casanova, Laurent Abel, Etienne Patin
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance. Proceedings of the National Academy of Sciences of the United States of America 118 (3) (2021)
Anna-Lena Neehus, Kunihiko Moriya, Alejandro Nieto-Patlán, Tom Le Voyer, Romain Levy, Ahmet Ozen, Elif Karakoç Aydıner, Safa Barış, Alisan Yildiran, Engin Altundag, Manon Roynard, Kathrin Haake, Mélanie Migaud, Karim Dorgham, Guy Gorochov, Laurent Abel, Nico Lachmann, Figen Doğu, Sule Haskologlu, Erdal İnce, Jamel El Benna, Gulbu Uzel, Ayça Kiykim, Kaan Boztug, Marion Ruth Roderick, Mohammad Shahrooei, Paul A Brogan, Hassan Abolhassani, Gonca Hancioglu, Nima Parvaneh, Alexandre Belot, Aydan İkincioğulları, Jean Laurent Casanova, Anne Puel, Jacinta Bustamante
Impaired respiratory burst contributes to infections in PKCδ-deficient patients. The Journal of experimental medicine 218 (9) (2021)
Ximena León-Lara, Alejandro Campos-Murguía, Pablo León-Cabral, Andrea Tello-Mercado, Noel Salgado-Nesme, Jesús Delgado de la Mora, Stéphanie Boisson- Dupuis, Jacinta Bustamante, Lizbeth Blancas-Galicia
Disseminated Tuberculosis in a Patient with Autosomal Recessive p47phox Chronic Granulomatous Disease. Journal of clinical immunology 41 (6) (2021)
Tom Le Voyer, Anna-Lena Neehus, Rui Yang, Masato Ogishi, Jérémie Rosain, Fayhan Alroqi, Maha Alshalan, Philippe Lepage, Fatima Al Ali, Taushif Khan, Manar Mahmoud Ahmad Ata, Laurence Rozen, Anne Demulder, Paul Bastard, Conor Gruber, Manon Roynard, Yoann Seeleuthener, Franck Rapaport, Benedetta Bigio, Maya Chrabieh, Danielle Sng, Laureline Berteloot, Nathalie Boddaert, Flore Rozenberg, Saleh Al-Muhsen, Aida Maria Bertoli-Avella, Laurent Abel, Dusan Bogunovic, Nico Marr, Davood Mansouri, Fuad Al Mutairi, Vivien Béziat, Dominique Weil, Seyed Alireza Mahdaviani, Alina Ferster, Shen-Ying Zhang, Bruno Reversade, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Proceedings of the National Academy of Sciences of the United States of America 118 (15) (2021)
Carmen Oleaga-Quintas, Edgar Borges de Oliveira-Júnior, Jérémie Rosain, Franck Rapaport, Caroline Deswarte, Antoine Guérin, Sairaj Munavar Sajjath, Yu Jerry Zhou, Stéphane Marot, Claire Lozano, Lidia Branco, Nuria Fernández-Hidalgo, Dukhee Betty Lew, Anne-Sophie Brunel, Caroline Thomas, Elise Launay, Andrés Augusto Arias, Alexis Cuffel, Vanesa Cunill Monjo, Anna-Lena Neehus, Laura Marques, Manon Roynard, Marcela Moncada-Vélez, Bengü Gerçeker, Roger Colobran, Marie-Gabrielle Vigué, Gabriela Lopez-Herrera, Laura Berron-Ruiz, Nora Hilda Segura Méndez, Patricia O'Farrill Romanillos, Tom Le Voyer, Anne Puel, Christine Bellanné-Chantelot, Kacy A Ramirez, Lazaro Lorenzo-Diaz, Noé Ramirez Alejo, Rebeca Pérez de Diego, Antonio Condino-Neto, Fethi Mellouli, Carlos Rodriguez-Gallego, Torsten Witte, José Franco Restrepo, Mariana Jobim, Stéphanie Boisson-Dupuis, Eric Jeziorski, Claire Fieschi, Guillaume Vogt, Jean Donadieu, Marlène Pasquet, Julia Vasconcelos, Fatma Omur Ardeniz, Mónica Martínez-Gallo, Regis A Campos, Luiz Fernando Jobim, Rubén Martínez-Barricarte, Kang Liu, Aurélie Cobat, Laurent Abel, Jean-Laurent Casanova, Jacinta Bustamante
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance. Journal of clinical immunology 41 (3) (2021)
Juan Li, Wei-Te Lei, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Bingnan Lyu, Takaki Asano, Jérémie Rosain, Boualem Hammadi, Yu Zhang, Simon J Pelham, András N Spaan, Mélanie Migaud, David Hum, Benedetta Bigio, Maya Chrabieh, Vivien Béziat, Jacinta Bustamante, Shen-Ying Zhang, Emmanuelle Jouanguy, Stéphanie Boisson-Dupuis, Jamila E I Baghdadi, Vishukumar Aimanianda, Katharina Thoma, Manfred Fliegauf, Bodo Grimbacher, Anne-Sophie Korganow, Carol J Saunders, V Koneti Rao, Gulbu Uzel, Alexandra F Freeman, Steven M Holland, Helen C Su, Charlotte Cunningham-Rundles, Claire Fieschi, Laurent Abel, Anne Puel, Aurélie Cobat, Jean Laurent Casanova, Qian Zhang, Bertrand Boisson
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency. The Journal of experimental medicine 218 (11) (2021)
Jean-Laurent Casanova, Marc Weisshaar, Federico Mele, Ibtihal Benhsaien, Karim Dorgham, Jing Han, Carys A Croft, Samuele Notarbartolo, Jérémie Rosain, Paul Bastard, Anne Puel, Bernhard Fleckenstein, Laurie H Glimcher, James P Di Santo, Cindy S Ma, Guy Gorochov, Ahmed Aziz Bousfiha, Laurent Abel, Stuart G Tangye, Jean Laurent Casanova, Jacinta Bustamante, Federica Sallusto
High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency. The Journal of experimental medicine 218 (8) (2021)
Preeti Singh, Maninder Heer, Anastasia Resteu, Aneta Mikulasova, Mojgan Reza, Laëtitia Largeaud, Stephanie Dufrechou, Nais Prade, Rachel E Dickinson, Jacinta Bustamante, Bénédicte Neven, Venetia Bigley, Eric Delabesse, Daniel Rico, Marlène Pasquet, Matthew Collin
GATA2 deficiency phenotype associated with tandem duplication GATA2 and over-expression of GATA2-AS1. Blood advances (2021)
Gaspard Kerner, Matthieu Bouaziz, Aurélie Cobat, Benedetta Bigio, Andrew T Timberlake, Jacinta Bustamante, Richard P Lifton, Jean-Laurent Casanova, Laurent Abel
A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proceedings of the National Academy of Sciences of the United States of America 117 (32) (2020)
Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease: recent discoveries. Human genetics 139 (6-7) (2020)
Lizbeth Blancas-Galicia, Eros Santos-Chávez, Caroline Deswarte, Quentin Mignac, Isabel Medina-Vera, Ximena León-Lara, Manon Roynard, Selma C Scheffler-Mendoza, Ricardo Rioja-Valencia, Alexandra Alvirde-Ayala, Saul O Lugo Reyes, Tamara Staines-Boone, Jorge García-Campos, Omar J Saucedo-Ramírez, Blanca E Del-Río Navarro, Antonio Zamora-Chávez, Arturo López-Larios, Susana García-Pavón-Osorio, Eugenia Melgoza-Arcos, María R Canseco-Raymundo, Dolores Mogica-Martínez, Marco Venancio-Hernández, Daniel Pacheco-Rosas, Sigifredo Pedraza-Sánchez, Martha Guevara-Cruz, Federico Saracho-Weber, Berenise Gámez-González, Guillermo Wakida-Kuzunoki, Ana R Morán-Mendoza, Ana P Macías-Robles, Roselia Ramírez-Rivera, Eugenia Vargas-Camaño, Carmen Zarate-Hernández, Héctor Gómez-Tello, Emmanuel Ramírez-Sánchez, Fredy Ruíz-Hernández, Domingo Ramos-López, Héctor Acuña-Martínez, María L García-Cruz, María G Román-Jiménez, Marina G González-Villarreal, Aristóteles Álvarez-Cardona, Beatriz A Llamas-Guillén, Jennifer Cuellar-Rodríguez, Alberto Olaya-Vargas, Nideshda Ramírez-Uribe, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Francisco J Espinosa-Rosales, Jeanet Serafín-López, Marco Yamazaki-Nakashimada, Sara Espinosa-Padilla, Jacinta Bustamante
Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease. Journal of clinical immunology 40 (3) (2020)
Qian Zhang, Paul Bastard, Zhiyong Liu, Jérémie Le Pen, Marcela Moncada-Velez, Jie Chen, Masato Ogishi, Ira K D Sabli, Stephanie Hodeib, Cecilia Korol, Jérémie Rosain, Kaya Bilguvar, Junqiang Ye, Alexandre Bolze, Benedetta Bigio, Jean-Laurent Casanova, Andrés Augusto Arias, Qinhua Zhou, Yu Zhang, Fanny Onodi, Sarantis Korniotis, Léa Karpf, Quentin Philippot, Marwa Chbihi, Lucie Bonnet-Madin, Karim Dorgham, Nikaïa Smith, William M Schneider, Brandon S Razooky, Hans-Heinrich Hoffmann, Eleftherios Michailidis, Leen Moens, Ji Eun Han, Lazaro Lorenzo, Lucy Bizien, Philip Meade, Anna-Lena Neehus, Aileen Camille Ugurbil, Aurélien Corneau, Gaspard Kerner, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Jérémy Manry, Cecile Masson, Yohann Schmitt, Agatha Schlüter, Tom Le Voyer, Taushif Khan, Juan Li, Jacques Fellay, Lucie Roussel, Mohammad Shahrooei, Mohammed F Alosaimi, Davood Mansouri, Haya Al-Saud, Fahd Al-Mulla, Feras Almourfi, Saleh Zaid Al-Muhsen, Fahad Alsohime, Saeed H Al Turki, Rana Hasanato, Diederik van de Beek, Andrea Biondi, Laura Rachele Bettini, Mariella D'Angio', Bonfanti Paolo, Luisa Imberti, Alessandra Sottini, Simone Paghera, Eugenia Quiros-Roldan, Camillo Rossi, Andrew J Oler, Miranda F Tompkins, Camille Alba, Isabelle Vandernoot, Jean-Christophe Goffard, Guillaume Smits, Isabelle Migeotte, Filomeen Haerynck, Pere Soler-Palacin, Andrea Martin-Nalda, Roger Colobran, Pierre-Emmanuel Morange, Sevgi Keles, Fatma Çölkesen, Tayfun Ozcelik, Kadriye Kart Yasar, Sevtap Şenoğlu, Semsi Nur Karabela, Carlos Flores, Giuseppe Novelli, Sami Hraiech, Yacine Tandjaoui-Lambiotte, Xavier Duval, Cédric Laouénan, null null, null null, null null, null null, null null, null null, null null, null null, Andrew L Snow, Clifford L Dalgard, Joshua D Milner, Donald C Vinh, Trine Hyrup Mogensen, Nico Marr, András N Spaan, Bertrand Boisson, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Anne Puel, Michael J Ciancanelli, Isabelle Meyts, Tom Maniatis, Vassili Soumelis, Ali Amara, Michel C Nussenzweig, Adolfo García-Sastre, Florian Krammer, Aurora Pujol, Darragh Duffy, Richard P Lifton, Shen-Ying Zhang, Guy Gorochov, Vivien Béziat, Emmanuelle Jouanguy, Sancho-Shimizu Vanessa, Charles M Rice, Laurent Abel, Luigi Daniele Notarangelo, Aurélie Cobat, Helen C Su, Jean Laurent Casanova
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science (New York, N.Y.) 370 (6515) (2020)
Burcu Bursal Duramaz, Özden Türel, Gülşen Akkoç, Can Yilmaz Yozgat, Nurhan Aruçi Kasap, Elif Karakoç Aydıner, Jacinta Bustamante
Interleukin 12-23 deficiency in the interferon gamma pathway in a 6-month-old toddler who has BCG vaccine complications. Dermatologic therapy 33 (6) (2020)
Jérémie Rosain, Caroline Deswarte, Gonca Hancioglu, Carmen Oleaga-Quintas, Seyhan Kutlug, Ibrahim Kartal, Isinsu Kuzu, Laurie Toullec, Maud Tusseau, Jean-Laurent Casanova, Alisan Yildiran, Jacinta Bustamante
LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency. Journal of clinical immunology 39 (7) (2019)
Antoine Guérin, Gaspard Kerner, Nico Marr, Janet G Markle, Florence Fenollar, Natalie Wong, Sabri Boughorbel, Danielle T Avery, Cindy S Ma, Salim Bougarn, Matthieu Bouaziz, Vivien Béziat, Erika Della Mina, Carmen Oleaga-Quintas, Tomi Lazarov, Lisa Worley, Tina Nguyen, Etienne Patin, Caroline Deswarte, Rubén Martinez-Barricarte, Soraya Boucherit, Xavier Ayral, Sophie Edouard, Stéphanie Boisson-Dupuis, Vimel Rattina, Benedetta Bigio, Guillaume Vogt, Frédéric Geissmann, Lluis Quintana-Murci, Damien Chaussabel, Stuart G Tangye, Didier Raoult, Laurent Abel, Jacinta Bustamante, Jean Laurent Casanova
IRF4 haploinsufficiency in a family with Whipple's disease. eLife 7 (2018)