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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

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

J Exp Med (2024) 221 (8): e20232066.

https://doi.org/10.1084/jem.20232066

Published: 13 June 2024

View article titled, Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

Includes: Supplementary data

Journal Articles

Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

J Exp Med (2024) 221 (7): e2022112205142024c.

https://doi.org/10.1084/jem.2022112205142024c

Published: 21 May 2024

View article titled, Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

Journal Articles

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

In Special Collection:

JEM Clinical Immunology Collection 2024

J Exp Med (2024) 221 (7): e20221122.

https://doi.org/10.1084/jem.20221122

Published: 09 May 2024

View article titled, Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

Includes: Supplementary data

Journal Articles

Helper T cell immunity in humans with inherited CD4 deficiency

In Special Collection:

Journal-Based CME Activities with Journal of Experimental Medicine (JEM) , Thymus, T Cell Development, and Inborn Errors

Antoine Guérin, Marcela Moncada-Vélez, Katherine Jackson, Masato Ogishi, Jérémie Rosain, Mathieu Mancini, David Langlais, Andrea Nunez, Samantha Webster, Jesse Goyette, Taushif Khan, Nico Marr, Danielle T. Avery, Geetha Rao, Tim Waterboer, Birgitta Michels, Esmeralda Neves, Cátia Iracema Morais, Jonathan London, Stéphanie Mestrallet, Pierre Quartier dit Maire, Bénédicte Neven, Franck Rapaport, Yoann Seeleuthner, Atar Lev, Amos J. Simon, Jorge Montoya, Ortal Barel, Julio Gómez-Rodríguez, Julio C. Orrego, Anne-Sophie L’Honneur, Camille Soudée, Jessica Rojas, Alejandra C. Velez, Irini Sereti, Benjamin Terrier, Nancy Marin, Luis F. García, Laurent Abel, Stéphanie Boisson-Dupuis, Joel Reis, Antonio Marinho, Andrea Lisco, Emilia Faria, Christopher C. Goodnow, Julia Vasconcelos, Vivien Béziat, Cindy S. Ma, Raz Somech, Jean-Laurent Casanova, Jacinta Bustamante, Jose Luis Franco, Stuart G. Tangye

J Exp Med (2024) 221 (5): e20231044.

https://doi.org/10.1084/jem.20231044

Published: 01 April 2024

View article titled, Helper T cell immunity in humans with inherited CD4 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

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.

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

Includes: Supplementary data

Journal Articles

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

In Special Collection:

Thymus, T Cell Development, and Inborn Errors

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

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

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 IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Includes: Supplementary data

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

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.

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

Published: 05 February 2021

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

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

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

In Special Collection:

Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018

J Exp Med (2016) 213 (11): 2413–2435.

https://doi.org/10.1084/jem.20160576

Published: 19 September 2016

View article titled, Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

Includes: Supplementary data

NARROW

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

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

Helper T cell immunity in humans with inherited CD4 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

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

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

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

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

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

Inherited IL-18BP deficiency in human fulminant viral hepatitis

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

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