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Journal Articles

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

In Special Collection:
Cytokines Collection 2022
Qian Zhang, Daniela Matuozzo, Jérémie Le Pen, Danyel Lee, Leen Moens, Takaki Asano, Jonathan Bohlen, Zhiyong Liu, Marcela Moncada-Velez, Yasemin Kendir-Demirkol, Huie Jing, Lucy Bizien, Astrid Marchal, Hassan Abolhassani, Selket Delafontaine, Giorgia Bucciol, COVID Human Genetic Effort, Gulsum Ical Bayhan, Sevgi Keles, Ayca Kiykim, Selda Hancerli, Filomeen Haerynck, Benoit Florkin, Nevin Hatipoglu, Tayfun Ozcelik, Guillaume Morelle, Mayana Zatz, Lisa F.P. Ng, David Chien Lye, Barnaby Edward Young, Yee-Sin Leo, Clifton L. Dalgard, Richard P. Lifton, Laurent Renia, Isabelle Meyts, Emmanuelle Jouanguy, Lennart Hammarström, Qiang Pan-Hammarström, Bertrand Boisson, Paul Bastard, Helen C. Su, Stéphanie Boisson-Dupuis, Laurent Abel, Charles M. Rice, Shen-Ying Zhang, Aurélie Cobat, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
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
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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
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Includes: Supplementary data
Journal Articles

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

Juan Li, Wei-Te Lei, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Bingnan Lyu, Takaki Asano, Jérémie Rosain, Boualem Hammadi, Yu Zhang, Simon J. Pelham, András N. Spaan, Mélanie Migaud, David Hum, Benedetta Bigio, Maya Chrabieh, Vivien Béziat, Jacinta Bustamante, Shen-Ying Zhang, Emmanuelle Jouanguy, Stephanie Boisson-Dupuis, Jamila El Baghdadi, Vishukumar Aimanianda, Katharina Thoma, Manfred Fliegauf, Bodo Grimbacher, Anne-Sophie Korganow, Carol Saunders, V. Koneti Rao, Gulbu Uzel, Alexandra F. Freeman, Steven M. Holland, Helen C. Su, Charlotte Cunningham-Rundles, Claire Fieschi, Laurent Abel, Anne Puel, Aurélie Cobat, Jean-Laurent Casanova, Qian Zhang, Bertrand Boisson
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (11): e20210566.
https://doi.org/10.1084/jem.20210566
Published: 02 September 2021
View article titled, Biochemically deleterious human <em>NFKB1</em> variants underlie an autosomal dominant form of common variable immunodeficiency
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Includes: Supplementary data
Journal Articles

GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension

Kaela Drzewiecki, Jungmin Choi, Joseph Brancale, Michael A. Leney-Greene, Sinan Sari, Buket Dalgiç, Aysel Ünlüsoy Aksu, Gülseren Evirgen Şahin, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner, Dhanpat Jain, David Kleiner, Michael Schmalz, Kadakkal Radhakrishnan, Junhui Zhang, Kasper Hoebe, Helen C. Su, João P. Pereira, Michael J. Lenardo, Richard P. Lifton, Sílvia Vilarinho
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (7): e20201745.
https://doi.org/10.1084/jem.20201745
Published: 06 May 2021
View article titled, GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension
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Includes: Supplementary data
Journal Articles

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
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (7): e20210554.
https://doi.org/10.1084/jem.20210554
Published: 23 April 2021
View article titled, Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1
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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

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

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency

In Special Collection:
2017: The Year in Experimental Medicine , Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018
Ian T. Lamborn, Huie Jing, Yu Zhang, Scott B. Drutman, Jordan K. Abbott, Shirin Munir, Sangeeta Bade, Heardley M. Murdock, Celia P. Santos, Linda G. Brock, Evan Masutani, Emmanuel Y. Fordjour, Joshua J. McElwee, Jason D. Hughes, Dave P. Nichols, Aziz Belkadi, Andrew J. Oler, Corinne S. Happel, Helen F. Matthews, Laurent Abel, Peter L. Collins, Kanta Subbarao, Erwin W. Gelfand, Michael J. Ciancanelli, Jean-Laurent Casanova, Helen C. Su
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (7): 1949–1972.
https://doi.org/10.1084/jem.20161759
Published: 12 June 2017
View article titled, Recurrent rhinovirus infections in a child with inherited MDA5 deficiency
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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
Hassan Abolhassani, Emily S.J. Edwards, Aydan Ikinciogullari, Huie Jing, Stephan Borte, Marcus Buggert, Likun Du, Mami Matsuda-Lennikov, Rosa Romano, Rozina Caridha, Sangeeta Bade, Yu Zhang, Juliet Frederiksen, Mingyan Fang, Sevgi Kostel Bal, Sule Haskologlu, Figen Dogu, Nurdan Tacyildiz, Helen F. Matthews, Joshua J. McElwee, Emma Gostick, David A. Price, Umaimainthan Palendira, Asghar Aghamohammadi, Bertrand Boisson, Nima Rezaei, Annika C. Karlsson, Michael J. Lenardo, Jean-Laurent Casanova, Lennart Hammarström, Stuart G. Tangye, Helen C. Su, Qiang Pan-Hammarström
Journal: Journal of Experimental Medicine
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
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Includes: Supplementary data
Journal Articles

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

Carrie L. Lucas, Yu Zhang, Anthony Venida, Ying Wang, Jason Hughes, Joshua McElwee, Morgan Butrick, Helen Matthews, Susan Price, Matthew Biancalana, Xiaochuan Wang, Michael Richards, Tamara Pozos, Isil Barlan, Ahmet Ozen, V. Koneti Rao, Helen C. Su, Michael J. Lenardo
Journal: Journal of Experimental Medicine
J Exp Med (2014) 211 (13): 2537–2547.
https://doi.org/10.1084/jem.20141759
Published: 08 December 2014
View article titled, Heterozygous splice mutation in <em>PIK3R1</em> causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
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Journal Articles

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity

Qian Zhang, Christopher G. Dove, Jyh Liang Hor, Heardley M. Murdock, Dara M. Strauss-Albee, Jordan A. Garcia, Judith N. Mandl, Rachael A. Grodick, Huie Jing, Devon B. Chandler-Brown, Timothy E. Lenardo, Greg Crawford, Helen F. Matthews, Alexandra F. Freeman, Richard J. Cornall, Ronald N. Germain, Scott N. Mueller, Helen C. Su
Journal: Journal of Experimental Medicine
J Exp Med (2014) 211 (13): 2549–2566.
https://doi.org/10.1084/jem.20141307
Published: 24 November 2014
View article titled, DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity
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Includes: Supplementary data
Journal Articles

Congenital B cell lymphocytosis explained by novel germline CARD11 mutations

Andrew L. Snow, Wenming Xiao, Jeffrey R. Stinson, Wei Lu, Benjamin Chaigne-Delalande, Lixin Zheng, Stefania Pittaluga, Helen F. Matthews, Roland Schmitz, Sameer Jhavar, Stefan Kuchen, Lela Kardava, Wei Wang, Ian T. Lamborn, Huie Jing, Mark Raffeld, Susan Moir, Thomas A. Fleisher, Louis M. Staudt, Helen C. Su, Michael J. Lenardo
Journal: Journal of Experimental Medicine
J Exp Med (2012) 209 (12): 2247–2261.
https://doi.org/10.1084/jem.20120831
Published: 05 November 2012
View article titled, Congenital B cell lymphocytosis explained by novel germline <em>CARD11</em> mutations
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Includes: Supplementary data