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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
Journal: Journal of Experimental Medicine
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 <em>IFNAR1</em> allele in Polynesia underlies severe viral diseases in homozygotes
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Includes: Supplementary data
Journal Articles

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
Jie Chen, Huie Jing, Andrea Martin-Nalda, Paul Bastard, Jacques G. Rivière, Zhiyong Liu, Roger Colobran, Danyel Lee, Wesley Tung, Jeremy Manry, Mary Hasek, Soraya Boucherit, Lazaro Lorenzo, Flore Rozenberg, Mélodie Aubart, Laurent Abel, Helen C. Su, Pere Soler Palacin, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (12): e20211349.
https://doi.org/10.1084/jem.20211349
Published: 02 November 2021
View article titled, Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis
Open the PDF for Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis in another window
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
Paul Bastard, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Marwa Chbihi, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Yoann Seeleuthner, Adrian Gervais, Marie Materna, Patricia Mouta Nunes de Oliveira, Maria de Lourdes S. Maia, Ana Paula Dinis Ano Bom, Tamiris Azamor, Deborah Araújo da Conceição, Ekaterini Goudouris, Akira Homma, Günther Slesak, Johannes Schäfer, Bali Pulendran, Joseph D. Miller, Ralph Huits, Rui Yang, Lindsey B. Rosen, Lucy Bizien, Lazaro Lorenzo, Maya Chrabieh, Lucia V. Erazo, Flore Rozenberg, Mohamed Maxime Jeljeli, Vivien Béziat, Steven M. Holland, Aurélie Cobat, Luigi D. Notarangelo, Helen C. Su, Rafi Ahmed, Anne Puel, Shen-Ying Zhang, Laurent Abel, Stephen J. Seligman, Qian Zhang, Margaret R. MacDonald, Emmanuelle Jouanguy, Charles M. Rice, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
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
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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
Journal Articles

Severe influenza pneumonitis in children with inherited TLR3 deficiency

Hye Kyung Lim, Sarah X.L. Huang, Jie Chen, Gaspard Kerner, Olivier Gilliaux, Paul Bastard, Kerry Dobbs, Nicholas Hernandez, Nicolas Goudin, Mary L. Hasek, Eduardo Javier García Reino, Fabien G. Lafaille, Lazaro Lorenzo, Priya Luthra, Tatiana Kochetkov, Benedetta Bigio, Soraya Boucherit, Flore Rozenberg, Catherine Vedrinne, Michael D. Keller, Yuval Itan, Adolfo García-Sastre, Marie Celard, Jordan S. Orange, Michael J. Ciancanelli, Isabelle Meyts, Qian Zhang, Laurent Abel, Luigi D. Notarangelo, Hans-Willem Snoeck, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2019) 216 (9): 2038–2056.
https://doi.org/10.1084/jem.20181621
Published: 19 June 2019
View article titled, Severe influenza pneumonitis in children with inherited TLR3 deficiency
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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
Serkan Belkaya, Eleftherios Michailidis, Cecilia B. Korol, Mohammad Kabbani, Aurélie Cobat, Paul Bastard, Yoon Seung Lee, Nicholas Hernandez, Scott Drutman, Ype P. de Jong, Eric Vivier, Julie Bruneau, Vivien Béziat, Bertrand Boisson, Lazaro Lorenzo-Diaz, Soraya Boucherit, Mylène Sebagh, Emmanuel Jacquemin, Jean-François Emile, Laurent Abel, Charles M. Rice, Emmanuelle Jouanguy, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
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
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Includes: Supplementary data
Journal Articles

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

In Special Collection:
Inborn Errors of Immunity 2019
Nicholas Hernandez, Isabelle Melki, Huie Jing, Tanwir Habib, Susie S.Y. Huang, Jeffrey Danielson, Tomasz Kula, Scott Drutman, Serkan Belkaya, Vimel Rattina, Lazaro Lorenzo-Diaz, Anais Boulai, Yoann Rose, Naoki Kitabayashi, Mathieu P. Rodero, Cecile Dumaine, Stéphane Blanche, Marie-Noëlle Lebras, Man Chun Leung, Lisa Sara Mathew, Bertrand Boisson, Shen-Ying Zhang, Stephanie Boisson-Dupuis, Silvia Giliani, Damien Chaussabel, Luigi D. Notarangelo, Stephen J. Elledge, Michael J. Ciancanelli, Laurent Abel, Qian Zhang, Nico Marr, Yanick J. Crow, Helen C. Su, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
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
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Includes: Supplementary data
Journal Articles

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

In Special Collection:
Inborn Errors of Immunity 2019 , Clinical Collection Spring 2019 , Skin Health and Disease
Sarah Jill de Jong, Amandine Créquer, Irina Matos, David Hum, Vignesh Gunasekharan, Lazaro Lorenzo, Fabienne Jabot-Hanin, Elias Imahorn, Andres A. Arias, Hassan Vahidnezhad, Leila Youssefian, Janet G. Markle, Etienne Patin, Aurelia D’Amico, Claire Q.F. Wang, Florian Full, Armin Ensser, Tina M. Leisner, Leslie V. Parise, Matthieu Bouaziz, Nataly Portilla Maya, Xavier Rueda Cadena, Bayaki Saka, Amir Hossein Saeidian, Nessa Aghazadeh, Sirous Zeinali, Peter Itin, James G. Krueger, Lou Laimins, Laurent Abel, Elaine Fuchs, Jouni Uitto, Jose Luis Franco, Bettina Burger, Gérard Orth, Emmanuelle Jouanguy, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2018) 215 (9): 2289–2310.
https://doi.org/10.1084/jem.20170308
Published: 01 August 2018
View article titled, The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses
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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
Yi Wang, Cindy S. Ma, Yun Ling, Aziz Bousfiha, Yildiz Camcioglu, Serge Jacquot, Kathryn Payne, Elena Crestani, Romain Roncagalli, Aziz Belkadi, Gaspard Kerner, Lazaro Lorenzo, Caroline Deswarte, Maya Chrabieh, Etienne Patin, Quentin B. Vincent, Ingrid Müller-Fleckenstein, Bernhard Fleckenstein, Fatima Ailal, Lluis Quintana-Murci, Sylvie Fraitag, Marie-Alexandra Alyanakian, Marianne Leruez-Ville, Capucine Picard, Anne Puel, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Marie Malissen, Bernard Malissen, Laurent Abel, Alain Hovnanian, Luigi D. Notarangelo, Emmanuelle Jouanguy, Stuart G. Tangye, Vivien Béziat, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
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 <em>RLTPR</em> mutations
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Includes: Supplementary data
Journal Articles

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

Minji Byun, Cindy S. Ma, Arzu Akçay, Vincent Pedergnana, Umaimainthan Palendira, Jinjong Myoung, Danielle T. Avery, Yifang Liu, Avinash Abhyankar, Lazaro Lorenzo, Monika Schmidt, Hye Kyung Lim, Olivier Cassar, Melanie Migaud, Flore Rozenberg, Nur Canpolat, Gönül Aydoğan, Bernhard Fleckenstein, Jacinta Bustamante, Capucine Picard, Antoine Gessain, Emmanuelle Jouanguy, Ethel Cesarman, Martin Olivier, Philippe Gros, Laurent Abel, Michael Croft, Stuart G. Tangye, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2013) 210 (9): 1743–1759.
https://doi.org/10.1084/jem.20130592
Published: 29 July 2013
View article titled, Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood
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Includes: Supplementary data
Journal Articles

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

Melina Herman, Michael Ciancanelli, Yi-Hung Ou, Lazaro Lorenzo, Maja Klaudel-Dreszler, Elodie Pauwels, Vanessa Sancho-Shimizu, Rebeca Pérez de Diego, Avinash Abhyankar, Elisabeth Israelsson, Yiqi Guo, Annabelle Cardon, Flore Rozenberg, Pierre Lebon, Marc Tardieu, Edyta Heropolitańska-Pliszka, Damien Chaussabel, Michael A. White, Laurent Abel, Shen-Ying Zhang, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2012) 209 (9): 1567–1582.
https://doi.org/10.1084/jem.20111316
Published: 30 July 2012
View article titled, Heterozygous <em>TBK1</em> mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood
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Journal Articles

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

Yiqi Guo, Magali Audry, Michael Ciancanelli, Laia Alsina, Joana Azevedo, Melina Herman, Esperanza Anguiano, Vanessa Sancho-Shimizu, Lazaro Lorenzo, Elodie Pauwels, Paul Bastard Philippe, Rebeca Pérez de Diego, Annabelle Cardon, Guillaume Vogt, Capucine Picard, Zafitsara Zo Andrianirina, Flore Rozenberg, Pierre Lebon, Sabine Plancoulaine, Marc Tardieu, Valérie Doireau, Emmanuelle Jouanguy, Damien Chaussabel, Frederic Geissmann, Laurent Abel, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2011) 208 (10): 2083–2098.
https://doi.org/10.1084/jem.20101568
Published: 12 September 2011
View article titled, Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity
Open the PDF for Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity in another window
Includes: Supplementary data