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Jean-Laurent Casanova
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Journal Articles

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

Adrian Gervais, Francesca Rovida, Maria Antonietta Avanzini, Stefania Croce, Astrid Marchal, Shih-Ching Lin, Alessandro Ferrari, Christian W. Thorball, Orianne Constant, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Micol Angelini, Malena Pérez Lorenzo, Lucy Bizien, Cristian Achille, Francesca Trespidi, Elisa Burdino, Irene Cassaniti, Daniele Lilleri, Chiara Fornara, José Camilla Sammartino, Danilo Cereda, Chiara Marrocu, Antonio Piralla, Chiara Valsecchi, Stefano Ricagno, Paola Cogo, Olaf Neth, Inés Marín-Cruz, Monia Pacenti, Alessandro Sinigaglia, Marta Trevisan, Andrea Volpe, Antonio Marzollo, Francesca Conti, Tiziana Lazzarotto, Andrea Pession, Pierluigi Viale, Jacques Fellay, Stefano Ghirardello, Mélodie Aubart, Valeria Ghisetti, Alessandro Aiuti, Emmanuelle Jouanguy, Paul Bastard, Elena Percivalle, Fausto Baldanti, Anne Puel, Margaret R. MacDonald, Charles M. Rice, Giada Rossini, Kristy O. Murray, Yannick Simonin, Anna Nagy, Luisa Barzon, Laurent Abel, Michael S. Diamond, Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent Casanova, Alessandro Borghesi
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (9): e20230661.
https://doi.org/10.1084/jem.20230661
Published: 22 June 2023
View article titled, Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients
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Journal Articles

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

In Special Collection:
Autoimmunity: From Novel Mechanisms to Treatments
Kunihiko Moriya, Tomohiro Nakano, Yoshitaka Honda, Miyuki Tsumura, Masato Ogishi, Motoshi Sonoda, Masahiko Nishitani-Isa, Takashi Uchida, Mohamed Hbibi, Yoko Mizoguchi, Masataka Ishimura, Kazushi Izawa, Takaki Asano, Fumihiko Kakuta, Daiki Abukawa, Darawan Rinchai, Peng Zhang, Naotomo Kambe, Aziz Bousfiha, Takahiro Yasumi, Bertrand Boisson, Anne Puel, Jean-Laurent Casanova, Ryuta Nishikomori, Shouichi Ohga, Satoshi Okada, Yoji Sasahara, Shigeo Kure
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (9): e20212276.
https://doi.org/10.1084/jem.20212276
Published: 05 June 2023
View article titled, Human <em>RELA</em> dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity
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Includes: Supplementary data
Journal Articles

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

In Special Collection:
B Cell Biology in Health and Diseases
Romane Thouenon, Loïc Chentout, Nidia Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Benedicte Hoareau, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André, Marina Cavazzana, Anne Durandy, Jean-Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (6): e20221292.
https://doi.org/10.1084/jem.20221292
Published: 14 March 2023
View article titled, A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency
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Includes: Supplementary data
Journal Articles

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa E. James, Jill R. Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Henry Y. Lu, Gilbert T. Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P. Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A. Sharma, Joshua Dalmann, Robin van der Lee, Géraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip A. Richmond, Jessica J. Lee, Allison Matthews, Michael Seear, Alexandra K. Turvey, Rachael L. Philips, Terri F. Brown-Whitehorn, Christopher J. Gray, Kosuke Izumi, James R. Treat, Kathleen H. Wood, Justin Lack, Asya Khleborodova, Julie E. Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I. van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui Wah Lee, Marco Hok Kung Ho, Brian Hon Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique Bullens, Kate Sauer, Tania Claeys, Catherine M. Biggs, Emma C. Morris, Sergio D. Rosenzweig, John J. O’Shea, Wyeth W. Wasserman, H. Melanie Bedford, Clara D.M. van Karnebeek, Paolo Palma, Siobhan O. Burns, Isabelle Meyts, Jean-Laurent Casanova, Jonathan J. Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L. McKinnon, Yu Lung Lau, Vivien Béziat, Stuart E. Turvey
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (5): e20221755.
https://doi.org/10.1084/jem.20221755
Published: 08 March 2023
View article titled, Human germline heterozygous gain-of-function <em>STAT6</em> variants cause severe allergic disease
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Includes: Supplementary data
Journal Articles

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M. Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B. Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M. Marco, Claudio Pignata, Aziz Bousfiha, Stuart E. Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M. Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel H. Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, ESID Registry Working Party, COVID Human Genetic Effort, Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodríguez-Gallego
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (5): e20220170.
https://doi.org/10.1084/jem.20220170
Published: 03 March 2023
View article titled, Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
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Includes: Supplementary data
Journal Articles

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Romain Lévy, 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 S. 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 Baris, 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, Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Cagdas, Roshini S. Abraham, Alan P. Knutsen, Borre Fevang, Sagar Bhattad, Ayca Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Unal, Ashish Kumar, Christoph B. Geier, Ulrich Baumann, Bénédicte Neven, CARMIL2 Consortium, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean-Laurent Casanova, Fabian Hauck, Vivien Béziat
Journal: Journal of Experimental Medicine
J Exp Med (2022) 220 (2): e20220275.
https://doi.org/10.1084/jem.20220275
Published: 14 December 2022
View article titled, Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
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Includes: Supplementary data
Journal Articles

Correction: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, Marcela Moncada-Velez, Laura E. Covill, Peng Zhang, Ilad Alavi Darazam, Paul Bastard, Lucy Bizien, Giorgia Bucciol, Sara Lind Enoksson, Emmanuelle Jouanguy, Şemsi Nur Karabela, Taushif Khan, Yasemin Kendir-Demirkol, Andres Augusto Arias, Davood Mansouri, Per Marits, Nico Marr, Isabelle Migeotte, Leen Moens, Tayfun Ozcelik, Isabelle Pellier, Anton Sendel, Sevtap Şenoğlu, Mohammad Shahrooei, C.I. Edvard Smith, Isabelle Vandernoot, Karen Willekens, Kadriye Kart Yaşar, COVID Human Genetic Effort, Peter Bergman, Laurent Abel, Aurélie Cobat, Jean-Laurent Casanova, Isabelle Meyts, Yenan T. Bryceson
Journal: Journal of Experimental Medicine
J Exp Med (2022) 219 (12): e2022020210282022c.
https://doi.org/10.1084/jem.2022020210282022c
Published: 07 November 2022
View article titled, Correction: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
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Journal Articles

Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination

In Special Collection:
B Cell Biology in Health and Diseases
Aurélien Sokal, Paul Bastard, Pascal Chappert, Giovanna Barba-Spaeth, Slim Fourati, Alexis Vanderberghe, Pauline Lagouge-Roussey, Isabelle Meyts, Adrian Gervais, Magali Bouvier-Alias, Imane Azzaoui, Ignacio Fernández, Andréa de la Selle, Qian Zhang, Lucy Bizien, Isabelle Pellier, Agnès Linglart, Anya Rothenbuhler, Estelle Marcoux, Raphael Anxionnat, Nathalie Cheikh, Juliane Léger, Blanca Amador-Borrero, Fanny Fouyssac, Vanessa Menut, Jean-Christophe Goffard, Caroline Storey, Caroline Demily, Coralie Mallebranche, Jesus Troya, Aurora Pujol, Marie Zins, Pierre Tiberghien, Paul E. Gray, Peter McNaughton, Anna Sullivan, Jane Peake, Romain Levy, Laetitia Languille, Carlos Rodiguez-Gallego, Bertrand Boisson, Sébastien Gallien, Bénédicte Neven, Marc Michel, Bertrand Godeau, Laurent Abel, Felix A. Rey, Jean-Claude Weill, Claude-Agnès Reynaud, Stuart G. Tangye, Jean-Laurent Casanova, Matthieu Mahévas
Journal: Journal of Experimental Medicine
J Exp Med (2022) 220 (1): e20220258.
https://doi.org/10.1084/jem.20220258
Published: 07 November 2022
View article titled, Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination
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Includes: Supplementary data
Journal Articles

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

Masato Ogishi, Rui Yang, Rémy Rodriguez, Dominic P. Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J. Pelham, Andrés Augusto Arias, Taushif Khan, Manar Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Laine, 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, Gulsum 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
Journal: Journal of Experimental Medicine
J Exp Med (2022) 220 (1): e20220484.
https://doi.org/10.1084/jem.20220484
Published: 03 November 2022
View article titled, Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis
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Includes: Supplementary data
Journal Articles

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

In Special Collection:
Journal-Based CME Activities with Journal of Experimental Medicine (JEM)
Qian Zhang, Andrés Pizzorno, Lisa Miorin, Paul Bastard, Adrian Gervais, Tom Le Voyer, Lucy Bizien, Jeremy Manry, Jérémie Rosain, Quentin Philippot, Kelian Goavec, Blandine Padey, Anastasija Cupic, Emilie Laurent, Kahina Saker, Martti Vanker, Karita Särekannu, COVID Human Genetic Effort, Etablissement Français du Sang Study Group, Constances Cohort, 3C-Dijon Study, Cerba HealthCare Group, Lyon Antigrippe Working Group, REIPI INF Working Group, Tamara García-Salum, Marcela Ferres, Nicole Le Corre, Javier Sánchez-Céspedes, María Balsera-Manzanero, Jordi Carratala, Pilar Retamar-Gentil, Gabriela Abelenda-Alonso, Adoración Valiente, Pierre Tiberghien, Marie Zins, Stéphanie Debette, Isabelle Meyts, Filomeen Haerynck, Riccardo Castagnoli, Luigi D. Notarangelo, Luis I. Gonzalez-Granado, Nerea Dominguez-Pinilla, Evangelos Andreakos, Vasiliki Triantafyllia, Carlos Rodríguez-Gallego, Jordi Solé-Violán, José Juan Ruiz-Hernandez, Felipe Rodríguez de Castro, José Ferreres, Marisa Briones, Joost Wauters, Lore Vanderbeke, Simon Feys, Chen-Yen Kuo, Wei-Te Lei, Cheng-Lung Ku, Galit Tal, Amos Etzioni, Suhair Hanna, Thomas Fournet, Jean-Sebastien Casalegno, Gregory Queromes, Laurent Argaud, Etienne Javouhey, Manuel Rosa-Calatrava, Elisa Cordero, Teresa Aydillo, Rafael A. Medina, Kai Kisand, Anne Puel, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Sophie Trouillet-Assant, Adolfo García-Sastre, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2022) 219 (11): e20220514.
https://doi.org/10.1084/jem.20220514
Published: 16 September 2022
View article titled, Autoantibodies against type I IFNs in patients with critical influenza pneumonia
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Includes: Supplementary data
Journal Articles

Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Masato Ogishi, Andrés Augusto Arias, Rui Yang, Ji Eun Han, Peng Zhang, Darawan Rinchai, Joshua Halpern, Jeanette Mulwa, Narelle Keating, Maya Chrabieh, Candice Lainé, Yoann Seeleuthner, Noé Ramírez-Alejo, Nioosha Nekooie-Marnany, Andrea Guennoun, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Sara S. 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 M. Willasch, Gerd Horneff, Genevieve Llanora, Lynette P. Shek, Louis Y.A. Chai, Sen Hee Tay, Hamid H. Rahimi, Seyed Alireza Mahdaviani, Serdar Nepesov, Aziz A. Bousfiha, Emine Hafize Erdeniz, Adem Karbuz, Nico Marr, Carmen Navarrete, Mehdi Adeli, Lennart Hammarstrom, Hassan Abolhassani, Nima Parvaneh, Saleh Al Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Maryam Nourizadeh, Mostafa Moin, Rand Arnaout, Saad Alshareef, Jamila El-Baghdadi, Ferah Genel, Roya Sherkat, Ayça Kiykim, Esra Yücel, Sevgi Keles, Jacinta Bustamante, Laurent Abel, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
Journal: Journal of Experimental Medicine
J Exp Med (2022) 219 (10): e20220094.
https://doi.org/10.1084/jem.20220094
Published: 12 September 2022
View article titled, Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency
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Includes: Supplementary data
Journal Articles

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

In Special Collection:
Cytokines Collection 2022
Qian Zhang, Daniela Matuozzo, Jérémie Le Pen, Danyel Lee, Leen Moens, Takaki Asano, Jonathan Bohlen, Zhiyong Liu, Marcela Moncada-Velez, Yasemin Kendir-Demirkol, Huie Jing, Lucy Bizien, Astrid Marchal, Hassan Abolhassani, Selket Delafontaine, Giorgia Bucciol, COVID Human Genetic Effort, Gulsum Ical Bayhan, Sevgi Keles, Ayca Kiykim, Selda Hancerli, Filomeen Haerynck, Benoit Florkin, Nevin Hatipoglu, Tayfun Ozcelik, Guillaume Morelle, Mayana Zatz, Lisa F.P. Ng, David Chien Lye, Barnaby Edward Young, Yee-Sin Leo, Clifton L. Dalgard, Richard P. Lifton, Laurent Renia, Isabelle Meyts, Emmanuelle Jouanguy, Lennart Hammarström, Qiang Pan-Hammarström, Bertrand Boisson, Paul Bastard, Helen C. Su, Stéphanie Boisson-Dupuis, Laurent Abel, Charles M. Rice, Shen-Ying Zhang, Aurélie Cobat, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2022) 219 (8): e20220131.
https://doi.org/10.1084/jem.20220131
Published: 16 June 2022
View article titled, Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
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Journal Articles

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

In Special Collection:
JEM Mucosal Immunology 2022
Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, Marcela Moncada-Velez, Laura E. Covill, Peng Zhang, Ilad Alavi Darazam, Paul Bastard, Lucy Bizien, Giorgia Bucciol, Sara Lind Enoksson, Emmanuelle Jouanguy, Şemsi Nur Karabela, Taushif Khan, Yasemin Kendir-Demirkol, Andres Augusto Arias, Davood Mansouri, Per Marits, Nico Marr, Isabelle Migeotte, Leen Moens, Tayfun Ozcelik, Isabelle Pellier, Anton Sendel, Sevtap Şenoğlu, Mohammad Shahrooei, C.I. Edvard Smith, Isabelle Vandernoot, Karen Willekens, Kadriye Kart Yaşar, COVID Human Genetic Effort, Peter Bergman, Laurent Abel, Aurélie Cobat, Jean-Laurent Casanova, Isabelle Meyts, Yenan T. Bryceson
Journal: Journal of Experimental Medicine
J Exp Med (2022) 219 (7): e20220202.
https://doi.org/10.1084/jem.20220202
Published: 07 June 2022
View article titled, Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
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Includes: Supplementary data
Journal Articles

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

In Special Collection:
JEM Clinical Immunology Collection 2022
Paul Bastard, Kuang-Chih Hsiao, Qian Zhang, Jeremy Choin, Emma Best, Jie Chen, Adrian Gervais, Lucy Bizien, Marie Materna, Christine Harmant, Maguelonne Roux, Nicola L. Hawley, Daniel E. Weeks, Stephen T. McGarvey, Karla Sandoval, Carmina Barberena-Jonas, Consuelo D. Quinto-Cortés, Erika Hagelberg, Alexander J. Mentzer, Kathryn Robson, Boubacar Coulibaly, Yoann Seeleuthner, Benedetta Bigio, Zhi Li, Gilles Uzé, Sandra Pellegrini, Lazaro Lorenzo, Zineb Sbihi, Sylvain Latour, Marianne Besnard, Tiphaine Adam de Beaumais, Evelyne Jacqz Aigrain, Vivien Béziat, Ranjan Deka, Litara Esera Tulifau, Satupa‘itea Viali, Muagututi‘a Sefuiva Reupena, Take Naseri, Peter McNaughton, Vanessa Sarkozy, Jane Peake, Annaliesse Blincoe, Sarah Primhak, Simon Stables, Kate Gibson, See-Tarn Woon, Kylie Marie Drake, Adrian V.S. Hill, Cheng-Yee Chan, Richard King, Rohan Ameratunga, Iotefa Teiti, Maite Aubry, Van-Mai Cao-Lormeau, Stuart G. Tangye, Shen-Ying Zhang, Emmanuelle Jouanguy, Paul Gray, Laurent Abel, Andrés Moreno-Estrada, Ryan L. Minster, Lluis Quintana-Murci, Andrew C. Wood, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2022) 219 (6): e20220028.
https://doi.org/10.1084/jem.20220028
Published: 20 April 2022
View article titled, A loss-of-function <em>IFNAR1</em> allele in Polynesia underlies severe viral diseases in homozygotes
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Includes: Supplementary data
Journal Articles

Human autoantibodies underlying infectious diseases

In Special Collection:
Innate Immunity: From Basic Biology to Human Disease
Anne Puel, Paul Bastard, Jacinta Bustamante, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2022) 219 (4): e20211387.
https://doi.org/10.1084/jem.20211387
Published: 23 March 2022
View article titled, Human autoantibodies underlying infectious diseases
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Journal Articles

A partial form of inherited human USP18 deficiency underlies infection and inflammation

In Special Collection:
Cytokines Collection 2022 , Innate Immunity: From Basic Biology to Human Disease
Marta Martin-Fernandez, Sofija Buta, Tom Le Voyer, Zhi Li, Lasse Toftdal Dynesen, Françoise Vuillier, Lina Franklin, Fatima Ailal, Alice Muglia Amancio, Louise Malle, Conor Gruber, Ibtihal Benhsaien, Jennie Altman, Justin Taft, Caroline Deswarte, Manon Roynard, Alejandro Nieto-Patlan, Kunihiko Moriya, Jérémie Rosain, Nathalie Boddaert, Aziz Bousfiha, Yanick J. Crow, Dragana Jankovic, Alan Sher, Jean-Laurent Casanova, Sandra Pellegrini, Jacinta Bustamante, Dusan Bogunovic
Journal: Journal of Experimental Medicine
J Exp Med (2022) 219 (4): e20211273.
https://doi.org/10.1084/jem.20211273
Published: 08 March 2022
View article titled, A partial form of inherited human USP18 deficiency underlies infection and inflammation
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Includes: Supplementary data
Journal Articles

TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C

Levi Hoste, Lisa Roels, Leslie Naesens, Victor Bosteels, Stijn Vanhee, Sam Dupont, Cedric Bosteels, Robin Browaeys, Niels Vandamme, Kevin Verstaen, Jana Roels, Karel F.A. Van Damme, Bastiaan Maes, Elisabeth De Leeuw, Jozefien Declercq, Helena Aegerter, Leen Seys, Ursula Smole, Sofie De Prijck, Manon Vanheerswynghels, Karlien Claes, Veronique Debacker, Gert Van Isterdael, Lynn Backers, Kathleen B.M. Claes, Paul Bastard, Emmanuelle Jouanguy, Shen-Ying Zhang, Gilles Mets, Joke Dehoorne, Kristof Vandekerckhove, Petra Schelstraete, Jef Willems, MIS-C Clinicians, Patrick Stordeur, Sophie Janssens, Rudi Beyaert, Yvan Saeys, Jean-Laurent Casanova, Bart N. Lambrecht, Filomeen Haerynck, Simon J. Tavernier
Journal: Journal of Experimental Medicine
J Exp Med (2021) 219 (2): e20211381.
https://doi.org/10.1084/jem.20211381
Published: 16 December 2021
View article titled, TIM3<sup>+</sup><em> TRBV11-2</em> T cells and IFNγ signature in patrolling monocytes and CD16<sup>+</sup> NK cells delineate MIS-C
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Includes: Supplementary data
Journal Articles

Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis

In Special Collection:
Innate Immunity: From Basic Biology to Human Disease
Jie Chen, Huie Jing, Andrea Martin-Nalda, Paul Bastard, Jacques G. Rivière, Zhiyong Liu, Roger Colobran, Danyel Lee, Wesley Tung, Jeremy Manry, Mary Hasek, Soraya Boucherit, Lazaro Lorenzo, Flore Rozenberg, Mélodie Aubart, Laurent Abel, Helen C. Su, Pere Soler Palacin, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (12): e20211349.
https://doi.org/10.1084/jem.20211349
Published: 02 November 2021
View article titled, Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis
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Includes: Supplementary data
Journal Articles

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

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, Stephanie Boisson-Dupuis, Jamila El Baghdadi, Vishukumar Aimanianda, Katharina Thoma, Manfred Fliegauf, Bodo Grimbacher, Anne-Sophie Korganow, Carol 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
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (11): e20210566.
https://doi.org/10.1084/jem.20210566
Published: 02 September 2021
View article titled, Biochemically deleterious human <em>NFKB1</em> variants underlie an autosomal dominant form of common variable immunodeficiency
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Includes: Supplementary data
Journal Articles

Correction: Early nasal type I IFN immunity against SARS-CoV-2 is compromised in patients with autoantibodies against type I IFNs

Jonathan Lopez, Marine Mommert, William Mouton, Andrés Pizzorno, Karen Brengel-Pesce, Mehdi Mezidi, Marine Villard, Bruno Lina, Jean-Christophe Richard, Jean-Baptiste Fassier, Valérie Cheynet, Blandine Padey, Victoria Duliere, Thomas Julien, Stéphane Paul, Paul Bastard, Alexandre Belot, Antonin Bal, Jean-Laurent Casanova, Manuel Rosa-Calatrava, Florence Morfin, Thierry Walzer, Sophie Trouillet-Assant
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (10): jem.2021121108132021c.
https://doi.org/10.1084/jem.2021121108132021c
Published: 20 August 2021
View article titled, Correction: Early nasal type I IFN immunity against SARS-CoV-2 is compromised in patients with autoantibodies against type I IFNs
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