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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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Journal Articles

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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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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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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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.

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

Published: 05 February 2021

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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.

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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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.

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

Published: 03 July 2019

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Includes: Supplementary data

NARROW

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

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

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

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

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