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Journal Articles

Impaired respiratory burst contributes to infections in PKCδ-deficient patients

Anna-Lena Neehus, Kunihiko Moriya, Alejandro Nieto-Patlán, Tom Le Voyer, Romain Lévy, Ahmet Özen, Elif Karakoc-Aydiner, Safa Baris, Alisan Yildiran, Engin Altundag, Manon Roynard, Kathrin Haake, Mélanie Migaud, Karim Dorgham, Guy Gorochov, Laurent Abel, Nico Lachmann, Figen Dogu, Sule Haskologlu, Erdal İnce, Jamel El-Benna, Gulbu Uzel, Ayca Kiykim, Kaan Boztug, Marion R. Roderick, Mohammad Shahrooei, Paul A. Brogan, Hassan Abolhassani, Gonca Hancioglu, Nima Parvaneh, Alexandre Belot, Aydan Ikinciogullari, Jean-Laurent Casanova, Anne Puel, Jacinta Bustamante
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (9): e20210501.
https://doi.org/10.1084/jem.20210501
Published: 15 July 2021
View article titled, Impaired respiratory burst contributes to infections in PKCδ-deficient patients
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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
Journal: Journal of Experimental Medicine
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 <em>IL6ST</em> underlie hyper-IgE syndrome
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Journal Articles

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

In Special Collection:
Cytokines Collection 2020
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
Journal: Journal of Experimental Medicine
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 <em>IL6ST</em> underlie hyper-IgE syndrome
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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

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

Yun Ling, Sophie Cypowyj, Caner Aytekin, Miguel Galicchio, Yildiz Camcioglu, Serdar Nepesov, Aydan Ikinciogullari, Figen Dogu, Aziz Belkadi, Romain Levy, Mélanie Migaud, Bertrand Boisson, Alexandre Bolze, Yuval Itan, Nicolas Goudin, Julien Cottineau, Capucine Picard, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova, Anne Puel
Journal: Journal of Experimental Medicine
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
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Journal Articles

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

Ludovic de Beaucoudrey, Anne Puel, Orchidée Filipe-Santos, Aurélie Cobat, Pegah Ghandil, Maya Chrabieh, Jacqueline Feinberg, Horst von Bernuth, Arina Samarina, Lucile Jannière, Claire Fieschi, Jean-Louis Stéphan, Catherine Boileau, Stanislas Lyonnet, Guillaume Jondeau, Valérie Cormier-Daire, Martine Le Merrer, Cyrille Hoarau, Yvon Lebranchu, Olivier Lortholary, Marie-Olivia Chandesris, François Tron, Eleonora Gambineri, Lucia Bianchi, Carlos Rodriguez-Gallego, Simona E. Zitnik, Julia Vasconcelos, Margarida Guedes, Artur Bonito Vitor, Laszlo Marodi, Helen Chapel, Brenda Reid, Chaim Roifman, David Nadal, Janine Reichenbach, Isabel Caragol, Ben-Zion Garty, Figen Dogu, Yildiz Camcioglu, Sanyie Gülle, Ozden Sanal, Alain Fischer, Laurent Abel, Birgitta Stockinger, Capucine Picard, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2008) 205 (7): 1543–1550.
https://doi.org/10.1084/jem.20080321
Published: 30 June 2008
View article titled, Mutations in <em>STAT3</em> and <em>IL12RB1</em> impair the development of human IL-17–producing T cells
Open the PDF for Mutations in <em>STAT3</em> and <em>IL12RB1</em> impair the development of human IL-17–producing T cells in another window
Includes: Supplementary data