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Journal Articles

The seven enigmas of SARS-CoV-2: From the past to the future

Evangelos Andreakos, Lisa Arkin, Paul Bastard, Alexandre Bolze, Alessandro Borghesi, Petter Brodin, Jean-Laurent Casanova, Giorgio Casari, Aurélie Cobat, Beth Drolet, Jacques Fellay, Elena W.Y. Hsieh, Isabelle Meyts, Trine H. Mogensen, Vanessa Sancho-Shimizu, András N. Spaan, Helen C. Su, Donald C. Vinh, Ahmad Yatim, Qian Zhang, Shen-Ying Zhang, COVID Human Genetic Effort
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (4): e20250149.
https://doi.org/10.70962/jhi.20250149
Published: 24 October 2025
View article titled, The seven enigmas of SARS-CoV-2: From the past to the future
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Includes: Supplementary data
Journal Articles

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers

In Special Collection:
Pattern Recognition Receptors and Beyond
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, Meltem Ece Kars, Selket Delafontaine, Verena Kienapfel, Mariia Dzhus, Rik Schrijvers, Petra De Haes, Sofie Struyf, Giorgia Bucciol, Yuval Itan, Alexandre Bolze, Arnout Voet, Anneleen Hombrouck, Leen Moens, Benson Ogunjimi, Isabelle Meyts
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (11): e20250499.
https://doi.org/10.1084/jem.20250499
Published: 27 August 2025
View article titled, Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
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Includes: Supplementary data
Journal Articles

Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients

Gerhard Kindle, Mickaël Alligon, Michael H. Albert, Matthew Buckland, J. David Edgar, Benjamin Gathmann, Sujal Ghosh, Antonios Gkantaras, Alexandra Nieters, Claudio Pignata, Peter N. Robinson, Stephan Rusch, Catharina Schuetz, Svetlana Sharapova, Benjamin Shillitoe, Fabio Candotti, Andrew J. Cant, Jean-Laurent Casanova, Amos Etzioni, Alain Fischer, Isabelle Meyts, Luigi D. Notarangelo, Martine Pergent, C.I. Edvard Smith, ESID Registry Working Party, Lennart Hammarström, Bodo Grimbacher, Mikko R.J. Seppänen, Nizar Mahlaoui, Stephan Ehl, Markus G. Seidel
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250007.
https://doi.org/10.70962/jhi.20250007
Published: 17 July 2025
View article titled, Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
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Includes: Supplementary data
Journal Articles

Autologous Lentiviral Vector LVFOXP3 CD4 T Cells for IPEX Syndrome

Jessie Alexander, Rajni Agarwal, Alaa Alkayed, Akshaya Ramachandran, Katherine Joseph, Julia Ye, Bing Wang, Simon Borna, Yu-Hsuan Kuo, Prachi Wani, Fariba Fazeli, Kunjan Kamdar, Niranchana Vallirajan, Kirstin Dougall, Erica Goodwin, Gopin Saini, Megan Cooper, Isabelle Meyts, Giorgia Bucciol, Leonardo Oliveira Mendonca, Hey Chong, Clinton Dunn, Maria Grazia Roncorolo, Rosa Bacchetta
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.27.
https://doi.org/10.70962/CIS2025abstract.27
Published: 25 April 2025
View article titled, Autologous Lentiviral Vector LVFOXP3 CD4 T Cells for IPEX Syndrome
Journal Articles

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

M. Cecilia Poli, Ivona Aksentijevich, Ahmed Aziz Bousfiha, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts, Stuart G. Tangye
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (1): e20250003.
https://doi.org/10.70962/jhi.20250003
Published: 15 April 2025
View article titled, Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
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Journal Articles

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity

Ahmed Aziz Bousfiha, Leïla Jeddane, Abderrahmane Moundir, M. Cecilia Poli, Ivona Aksentijevich, Charlotte Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R.J. Seppänen, Raz Somech, Helen C. Su, Kathleen E. Sullivan, Troy R. Torgerson, Stuart G. Tangye, Isabelle Meyts
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (1): e20250002.
https://doi.org/10.70962/jhi.20250002
Published: 15 April 2025
View article titled, The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
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Includes: Supplementary data
Journal Articles

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans

In Special Collection:
Genes and Immunity
Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho-Nhat, Tom Le Voyer, Jean-Christophe Debray, Marie-Claude Stolzenberg, Muriel Schmutz, Olivier Pellé, Thomas Becquard, María Rodrigo Riestra, Laureline Berteloot, Mélanie Migaud, Laure Delage, Marie Jeanpierre, Charlotte Boussard, Camille Brunaud, Aude Magérus, Charles Bretot, Victor Michel, Camille Roux, Capucine Picard, Cécile Masson, Christine Bole-Feysot, Nicolas Cagnard, Aurélien Corneau, Isabelle Meyts, Véronique Baud, Jean-Laurent Casanova, Alain Fischer, Emmanuel Dejardin, Anne Puel, Cécile Boulanger, Bénédicte Neven, Frédéric Rieux-Laucat
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (2): e20240843.
https://doi.org/10.1084/jem.20240843
Published: 15 January 2025
View article titled, Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
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Includes: Supplementary data
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
Journal: Journal of Experimental Medicine
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
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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
Journal: Journal of Experimental Medicine
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
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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
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 STAT6 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

PERK recruits E-Syt1 at ER–mitochondria contacts for mitochondrial lipid transport and respiration

In Special Collection:
Inter-Organelle Contacts , The Year in Cell Biology: 2023
Maria Livia Sassano, Alexander R. van Vliet, Ellen Vervoort, Sofie Van Eygen, Chris Van den Haute, Benjamin Pavie, Joris Roels, Johannes V. Swinnen, Marco Spinazzi, Leen Moens, Kristina Casteels, Isabelle Meyts, Paolo Pinton, Saverio Marchi, Leila Rochin, Francesca Giordano, Blanca Felipe-Abrio, Patrizia Agostinis
Journal: Journal of Cell Biology
J Cell Biol (2023) 222 (3): e202206008.
https://doi.org/10.1083/jcb.202206008
Published: 23 February 2023
View article titled, PERK recruits E-Syt1 at ER–mitochondria contacts for mitochondrial lipid transport and respiration
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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

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

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

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

Isabelle Meyts
Journal: Journal of Experimental Medicine
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
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Journal Articles

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

Anthony Lau, Danielle T. Avery, Katherine Jackson, Helen Lenthall, Stefano Volpi, Henry Brigden, Amanda J. Russell, Julia Bier, Joanne H. Reed, Joanne M. Smart, Theresa Cole, Sharon Choo, Paul E. Gray, Lucinda J. Berglund, Peter Hsu, Melanie Wong, Michael O’Sullivan, Kaan Boztug, Isabelle Meyts, Gulbu Uzel, Luigi D. Notarangelo, Robert Brink, Christopher C. Goodnow, Stuart G. Tangye, Elissa K. Deenick
Journal: Journal of Experimental Medicine
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
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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
Journal: Journal of Experimental Medicine
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
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Includes: Supplementary data