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Journal Articles

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Yi-Hao Chan, Vanja Lundberg, Jérémie Le Pen, Jiayi Yuan, Danyel Lee, Francesca Pinci, Stefano Volpi, Koji Nakajima, Vincent Bondet, Sanna Åkesson, Noopur V. Khobrekar, Aaron Bodansky, Likun Du, Tina Melander, Alice-Andrée Mariaggi, Yoann Seeleuthner, Tariq Shikh Saleh, Debanjana Chakravarty, Per Marits, Kerry Dobbs, Sofie Vonlanthen, Viktoria Hennings, Karolina Thörn, Darawan Rinchai, Lucy Bizien, Matthieu Chaldebas, Ali Sobh, Tayfun Özçelik, Sevgi Keles, Suzan A. AlKhater, Carolina Prando, Isabelle Meyts, COVID Human Genetic Effort, Michael R. Wilson, Jérémie Rosain, Emmanuelle Jouanguy, Mélodie Aubart, Laurent Abel, Trine H. Mogensen, Qiang Pan-Hammarström, Daxing Gao, Darragh Duffy, Aurélie Cobat, Stefan Berg, Luigi D. Notarangelo, Oliver Harschnitz, Charles M. Rice, Lorenz Studer, Jean-Laurent Casanova, Olov Ekwall, Shen-Ying Zhang

J Exp Med (2024) 221 (9): e20231725.

https://doi.org/10.1084/jem.20231725

Published: 18 July 2024

View article titled, SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Includes: Supplementary data

Journal Articles

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

In Special Collection:

Innate Immune Signaling: From Host Defense to Disease Pathogenesis

Paul Bastard, Adrian Gervais, Maki Taniguchi, Liisa Saare, Karita Särekannu, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Lucy Bizien, Takaki Asano, Marina Garcia-Prat, Alba Parra-Martínez, Mélanie Migaud, Miyuki Tsumura, Francesca Conti, Alexandre Belot, Jacques G. Rivière, Tomohiro Morio, Junko Tanaka, Etienne Javouhey, Filomeen Haerynck, Sotirija Duvlis, Tayfun Ozcelik, Sevgi Keles, Yacine Tandjaoui-Lambiotte, Simon Escoda, Maya Husain, Qiang Pan-Hammarström, Lennart Hammarström, Gloria Ahlijah, Anthony Abi Haidar, Camille Soudee, Vincent Arseguel, Hassan Abolhassani, Sabina Sahanic, Ivan Tancevski, Yoko Nukui, Seiichi Hayakawa, George P. Chrousos, Athanasios Michos, Elizabeth-Barbara Tatsi, Filippos Filippatos, Agusti Rodriguez-Palmero, Jesus Troya, Imran Tipu, Isabelle Meyts, Lucie Roussel, Sisse Rye Ostrowski, Laire Schidlowski, Carolina Prando, Antonio Condino-Neto, Nathalie Cheikh, Ahmed A. Bousfiha, Jalila El Bakkouri, COVID Clinicians, GEN-COVID Study Group, COVID Human Genetic Effort, Pärt Peterson, Aurora Pujol, Romain Lévy, Pierre Quartier, Donald C. Vinh, Bertrand Boisson, Vivien Béziat, Shen-Ying Zhang, Alessandro Borghesi, Andrea Pession, Evangelos Andreakos, Nico Marr, Alexios-Fotios A. Mentis, Trine H. Mogensen, Carlos Rodríguez-Gallego, Pere Soler-Palacin, Roger Colobran, Vallo Tillmann, Bénédicte Neven, Sophie Trouillet-Assant, Petter Brodin, Laurent Abel, Emmanuelle Jouanguy, Qian Zhang, Federico Martinón-Torres, Antonio Salas, Alberto Gómez-Carballa, Luis I. Gonzalez-Granado, Kai Kisand, Satoshi Okada, Anne Puel, Aurélie Cobat, Jean-Laurent Casanova

J Exp Med (2024) 221 (2): e20231353.

https://doi.org/10.1084/jem.20231353

Published: 04 January 2024

View article titled, Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

Journal Articles

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

In Special Collection:

2023: The Year in Experimental Medicine

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

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 STAT6 variants cause severe allergic disease

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

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

Includes: Supplementary data

Journal Articles

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

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

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

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

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

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

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

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

Journal Articles

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

In Special Collection:

JEM Mucosal Immunology 2022

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

Includes: Supplementary data

Journal Articles

Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic

Isabelle Meyts

J Exp Med (2022) 219 (6): e20220491.

https://doi.org/10.1084/jem.20220491

Published: 29 April 2022

View article titled, Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic

Journal Articles

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

J Exp Med (2019) 217 (2): e20191336.

https://doi.org/10.1084/jem.20191336

Published: 16 December 2019

View article titled, Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

Includes: Supplementary data

Journal Articles

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

In Special Collection:

2020 Nobel Prize Collection

Nicholas Hernandez, Giorgia Bucciol, Leen Moens, Jérémie Le Pen, Mohammad Shahrooei, Ekaterini Goudouris, Afshin Shirkani, Majid Changi-Ashtiani, Hassan Rokni-Zadeh, Esra Hazar Sayar, Ismail Reisli, Alain Lefevre-Utile, Dick Zijlmans, Andrea Jurado, Ruben Pholien, Scott Drutman, Serkan Belkaya, Aurelie Cobat, Robbert Boudewijns, Dirk Jochmans, Johan Neyts, Yoann Seeleuthner, Lazaro Lorenzo-Diaz, Chibuzo Enemchukwu, Ian Tietjen, Hans-Heinrich Hoffmann, Mana Momenilandi, Laura Pöyhönen, Marilda M. Siqueira, Sheila M. Barbosa de Lima, Denise C. de Souza Matos, Akira Homma, Maria de Lourdes S. Maia, Tamiris Azamor da Costa Barros, Patricia Mouta Nunes de Oliveira, Emersom Ciclini Mesquita, Rik Gijsbers, Shen-Ying Zhang, Stephen J. Seligman, Laurent Abel, Paul Hertzog, Nico Marr, Reinaldo de Menezes Martins, Isabelle Meyts, Qian Zhang, Margaret R. MacDonald, Charles M. Rice, Jean-Laurent Casanova, Emmanuelle Jouanguy, Xavier Bossuyt

J Exp Med (2019) 216 (9): 2057–2070.

https://doi.org/10.1084/jem.20182295

Published: 03 July 2019

View article titled, Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

Includes: Supplementary data

Journal Articles

Severe influenza pneumonitis in children with inherited TLR3 deficiency

J Exp Med (2019) 216 (9): 2038–2056.

https://doi.org/10.1084/jem.20181621

Published: 19 June 2019

View article titled, Severe influenza pneumonitis in children with inherited TLR3 deficiency

Includes: Supplementary data

Journal Articles

Germline-activating mutations in PIK3CD compromise B cell development and function

In Special Collection:

Inborn Errors of Immunity 2019

J Exp Med (2018) 215 (8): 2073–2095.

https://doi.org/10.1084/jem.20180010

Published: 17 July 2018

View article titled, Germline-activating mutations in PIK3CD compromise B cell development and function

Includes: Supplementary data

Journal Articles

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

In Special Collection:

Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018

J Exp Med (2017) 214 (5): 1547–1555.

https://doi.org/10.1084/jem.20161451

Published: 18 April 2017

View article titled, Detection of interferon alpha protein reveals differential levels and cellular sources in disease

Includes: Supplementary data

NARROW

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

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

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

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

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

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

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

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

Severe influenza pneumonitis in children with inherited TLR3 deficiency

Germline-activating mutations in PIK3CD compromise B cell development and function

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

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