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Journal Articles

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, Axel Cederholm, Laureline Berteloot, Audrey V. Parent, Alessandra Pescatore, Ezia Spinosa, Snezana Minic, Ana Elisa Kiszewski, Miyuki Tsumura, Chloé Thibault, Maria Esnaola Azcoiti, Jelena Martinovic, Quentin Philippot, Taushif Khan, Astrid Marchal, Bénédicte Charmeteau-De Muylder, Lucy Bizien, Caroline Deswarte, Lillia Hadjem, Marie-Odile Fauvarque, Karim Dorgham, Daniel Eriksson, Emilia Liana Falcone, Mathilde Puel, Sinem Ünal, Amyrath Geraldo, Corentin Le Floc’h, Hailun Li, Sylvie Rheault, Christine Muti, Claire Bobrie-Moyrand, Anne Welfringer-Morin, Ramsay L. Fuleihan, Romain Lévy, Marie Roelens, Liwei Gao, Marie Materna, Silvia Pellegrini, Lorenzo Piemonti, Emilie Catherinot, Jean-Christophe Goffard, Arnaud Fekkar, Aissata Sacko-Sow, Camille Soudée, Soraya Boucherit, Anna-Lena Neehus, Cristina Has, Stefanie Hübner, Géraldine Blanchard-Rohner, Blanca Amador-Borrero, Takanori Utsumi, Maki Taniguchi, Hiroo Tani, Kazushi Izawa, Takahiro Yasumi, Sotaro Kanai, Mélanie Migaud, Mélodie Aubart, Nathalie Lambert, Guy Gorochov, Capucine Picard, Claire Soudais, Anne-Sophie L’Honneur, Flore Rozenberg, Joshua D. Milner, Shen-Ying Zhang, Pierre Vabres, Dusan Trpinac, Nico Marr, Nathalie Boddaert, Isabelle Desguerre, Manolis Pasparakis, Corey N. Miller, Cláudia S. Poziomczyk, Laurent Abel, Satoshi Okada, Emmanuelle Jouanguy, Rémi Cheynier, Qian Zhang, Aurélie Cobat, Vivien Béziat, Bertrand Boisson, Julie Steffann, Francesca Fusco, Matilde Valeria Ursini, Smail Hadj-Rabia, Christine Bodemer, Jacinta Bustamante, Hervé Luche, Anne Puel, Gilles Courtois, Paul Bastard, Nils Landegren, Mark S. Anderson, Jean-Laurent Casanova

J Exp Med (2024) 221 (11): e20231152.

https://doi.org/10.1084/jem.20231152

Published: 01 October 2024

View article titled, Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

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

In Special Collection:

Autoimmunity: From Novel Mechanisms to Treatments

J Exp Med (2023) 220 (9): e20212276.

https://doi.org/10.1084/jem.20212276

Published: 05 June 2023

View article titled, Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

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

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

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

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

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

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

Published: 02 September 2021

View article titled, Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Includes: Supplementary data

Journal Articles

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

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

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

Published: 17 June 2021

View article titled, Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Includes: Supplementary data

Journal Articles

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.

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

Published: 09 June 2020

View article titled, Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

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.

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

Published: 24 March 2020

View article titled, Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Includes: Supplementary data

Journal Articles

Inherited IL-18BP deficiency in human fulminant viral hepatitis

In Special Collection:

2020 Nobel Prize Collection , Clinical Collection Summer 2019 , JEM Immunology Collection 2020

J Exp Med (2019) 216 (8): 1777–1790.

https://doi.org/10.1084/jem.20190669

Published: 18 June 2019

View article titled, Inherited IL-18BP deficiency in human fulminant viral hepatitis

Includes: Supplementary data

Journal Articles

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

In Special Collection:

Inborn Errors of Immunity 2019

J Exp Med (2018) 215 (10): 2567–2585.

https://doi.org/10.1084/jem.20180628

Published: 24 August 2018

View article titled, Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Includes: Supplementary data

Journal Articles

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

In Special Collection:

Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018

J Exp Med (2016) 214 (1): 91–106.

https://doi.org/10.1084/jem.20160849

Published: 23 December 2016

View article titled, Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

Includes: Supplementary data

Journal Articles

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Alexandra Y. Kreins, Michael J. Ciancanelli, Satoshi Okada, Xiao-Fei Kong, Noé Ramírez-Alejo, Sara Sebnem Kilic, Jamila El Baghdadi, Shigeaki Nonoyama, Seyed Alireza Mahdaviani, Fatima Ailal, Aziz Bousfiha, Davood Mansouri, Elma Nievas, Cindy S. Ma, Geetha Rao, Andrea Bernasconi, Hye Sun Kuehn, Julie Niemela, Jennifer Stoddard, Paul Deveau, Aurelie Cobat, Safa El Azbaoui, Ayoub Sabri, Che Kang Lim, Mikael Sundin, Danielle T. Avery, Rabih Halwani, Audrey V. Grant, Bertrand Boisson, Dusan Bogunovic, Yuval Itan, Marcela Moncada-Velez, Ruben Martinez-Barricarte, Melanie Migaud, Caroline Deswarte, Laia Alsina, Daniel Kotlarz, Christoph Klein, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Valerie Cormier-Daire, Stefan Rose-John, Capucine Picard, Lennart Hammarstrom, Anne Puel, Saleh Al-Muhsen, Laurent Abel, Damien Chaussabel, Sergio D. Rosenzweig, Yoshiyuki Minegishi, Stuart G. Tangye, Jacinta Bustamante, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis

J Exp Med (2015) 212 (10): 1641–1662.

https://doi.org/10.1084/jem.20140280

Published: 24 August 2015

View article titled, Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Includes: Supplementary data

Journal Articles

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

J Exp Med (2015) 212 (6): 939–951.

https://doi.org/10.1084/jem.20141130

Published: 25 May 2015

View article titled, Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Includes: Supplementary data

Journal Articles

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

J Exp Med (2015) 212 (5): 619–631.

https://doi.org/10.1084/jem.20141065

Published: 27 April 2015

View article titled, Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Journal Articles

LUBAC: A new function in immunity

Bertrand Boisson, Jean-Laurent Casanova

J Exp Med (2014) 211 (7): 1272.

https://doi.org/10.1084/jem.2117insight3

Published: 30 June 2014

View article titled, LUBAC: A new function in immunity

Journal Articles

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

Minji Byun, Avinash Abhyankar, Virginie Lelarge, Sabine Plancoulaine, Ayse Palanduz, Leyla Telhan, Bertrand Boisson, Capucine Picard, Scott Dewell, Connie Zhao, Emmanuelle Jouanguy, Stefan Feske, Laurent Abel, Jean-Laurent Casanova

J Exp Med (2010) 207 (11): 2307–2312.

https://doi.org/10.1084/jem.20101597

Published: 27 September 2010

View article titled, Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

Includes: Supplementary data

NARROW

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

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

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

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

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

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

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

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

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

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

Inherited IL-18BP deficiency in human fulminant viral hepatitis

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

LUBAC: A new function in immunity

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

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