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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.

DOI: https://doi.org/10.1084/jem.20220170

Published: 03 March 2023

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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

J Exp Med (2022) 220 (2): e20220275.

DOI: https://doi.org/10.1084/jem.20220275

Published: 14 December 2022

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

J Exp Med (2022) 219 (12): e2022020210282022c.

DOI: https://doi.org/10.1084/jem.2022020210282022c

Published: 07 November 2022

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Journal Articles

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

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.

DOI: https://doi.org/10.1084/jem.20220258

Published: 07 November 2022

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

J Exp Med (2022) 220 (1): e20220484.

DOI: https://doi.org/10.1084/jem.20220484

Published: 03 November 2022

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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.

DOI: https://doi.org/10.1084/jem.20220514

Published: 16 September 2022

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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

J Exp Med (2022) 219 (10): e20220094.

DOI: https://doi.org/10.1084/jem.20220094

Published: 12 September 2022

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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.

DOI: https://doi.org/10.1084/jem.20220131

Published: 16 June 2022

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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.

DOI: https://doi.org/10.1084/jem.20220202

Published: 07 June 2022

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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

J Exp Med (2022) 219 (6): e20220028.

DOI: https://doi.org/10.1084/jem.20220028

Published: 20 April 2022

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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

J Exp Med (2021) 218 (12): e20211349.

DOI: https://doi.org/10.1084/jem.20211349

Published: 02 November 2021

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

J Exp Med (2021) 218 (11): e20210566.

DOI: https://doi.org/10.1084/jem.20210566

Published: 02 September 2021

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Impaired respiratory burst contributes to infections in PKCδ-deficient patients

J Exp Med (2021) 218 (9): e20210501.

DOI: https://doi.org/10.1084/jem.20210501

Published: 15 July 2021

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High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

In Special Collection:

Cytokines Collection 2021 , Innate Immunity: From Basic Biology to Human Disease

J Exp Med (2021) 218 (8): e20202726.

DOI: https://doi.org/10.1084/jem.20202726

Published: 23 June 2021

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Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

J Exp Med (2021) 218 (8): e20202592.

DOI: https://doi.org/10.1084/jem.20202592

Published: 17 June 2021

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SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Vanessa Sancho-Shimizu, Petter Brodin, Aurélie Cobat, Catherine M. Biggs, Julie Toubiana, Carrie L. Lucas, Sarah E. Henrickson, Alexandre Belot, MIS-C@CHGE, Stuart G. Tangye, Joshua D. Milner, Michael Levin, Laurent Abel, Dusan Bogunovic, Jean-Laurent Casanova, Shen-Ying Zhang

J Exp Med (2021) 218 (6): e20210446.

DOI: https://doi.org/10.1084/jem.20210446

Published: 27 April 2021

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Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

In Special Collection:

Cytokines Collection 2021 , Innate Immunity: From Basic Biology to Human Disease , JEM Clinical Immunology Collection 2021

Paul Bastard, Elizaveta Orlova, Leila Sozaeva, Romain Lévy, Alyssa James, Monica M. Schmitt, Sebastian Ochoa, Maria Kareva, Yulia Rodina, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Anna-Lena Neehus, Elana Shaw, Mélanie Migaud, Lucy Bizien, Olov Ekwall, Stefan Berg, Guglielmo Beccuti, Lucia Ghizzoni, Gérard Thiriez, Arthur Pavot, Cécile Goujard, Marie-Louise Frémond, Edwin Carter, Anya Rothenbuhler, Agnès Linglart, Brigite Mignot, Aurélie Comte, Nathalie Cheikh, Olivier Hermine, Lars Breivik, Eystein S. Husebye, Sébastien Humbert, Pierre Rohrlich, Alain Coaquette, Fanny Vuoto, Karine Faure, Nizar Mahlaoui, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Kai Kisand, Elise M.N. Ferré, Thomas DiMaggio, Lindsey B. Rosen, Peter D. Burbelo, Martin McIntyre, Nelli Y. Kann, Anna Shcherbina, Maria Pavlova, Anna Kolodkina, Steven M. Holland, Shen-Ying Zhang, Yanick J. Crow, Luigi D. Notarangelo, Helen C. Su, Laurent Abel, Mark S. Anderson, Emmanuelle Jouanguy, Bénédicte Neven, Anne Puel, Jean-Laurent Casanova, Michail S. Lionakis

J Exp Med (2021) 218 (7): e20210554.

DOI: https://doi.org/10.1084/jem.20210554

Published: 23 April 2021

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Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine

In Special Collection:

Antibodies at the Forefront of Disease Treatment , JEM Clinical Immunology Collection 2021

J Exp Med (2021) 218 (4): e20202486.

DOI: https://doi.org/10.1084/jem.20202486

Published: 05 February 2021

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Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Vivien Béziat, Simon J. Tavernier, Yin-Huai Chen, Cindy S. Ma, Marie Materna, Arian Laurence, Jens Staal, Dominik Aschenbrenner, Lisa Roels, Lisa Worley, Kathleen Claes, Lisa Gartner, Lisa A. Kohn, Marieke De Bruyne, Klaus Schmitz-Abe, Louis-Marie Charbonnier, Sevgi Keles, Justine Nammour, Natasha Vladikine, Majistor Raj Luxman Maglorius Renkilaraj, Yoann Seeleuthner, Mélanie Migaud, Jérémie Rosain, Mohamed Jeljeli, Bertrand Boisson, Eva Van Braeckel, Jill A. Rosenfeld, Hongzheng Dai, Lindsay C. Burrage, David R. Murdock, Bart N. Lambrecht, Véronique Avettand-Fenoel, Tiphanie P. Vogel, Undiagnosed Diseases Network, Charles R. Esther, Jr., Sule Haskologlu, Figen Dogu, Peter Ciznar, David Boutboul, Marie Ouachée-Chardin, Jean Amourette, Marie-Noëlle Lebras, Clément Gauvain, Colas Tcherakian, Aydan Ikinciogullari, Rudi Beyaert, Laurent Abel, Joshua D. Milner, Bodo Grimbacher, Louis-Jean Couderc, Manish J. Butte, Alexandra F. Freeman, Émilie Catherinot, Claire Fieschi, Talal A. Chatila, Stuart G. Tangye, Holm H. Uhlig, Filomeen Haerynck, Jean-Laurent Casanova, Anne Puel

J Exp Med (2020) 217 (7): e2019180405272020c.

DOI: https://doi.org/10.1084/jem.2019180405272020c

Published: 09 June 2020

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Journal Articles

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

In Special Collection:

Cytokines Collection 2020

J Exp Med (2020) 217 (6): e20191804.

DOI: https://doi.org/10.1084/jem.20191804

Published: 24 March 2020

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NARROW

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

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

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

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

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

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

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

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

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

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

Impaired respiratory burst contributes to infections in PKCδ-deficient patients

High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

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