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Journal Articles

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

In Special Collection:
JEM Clinical Immunology Collection 2024 , Cytokines Collection 2024 , Genes and Immunity , Immunology Update Winter 2025
Victoria E. Rael, Julian A. Yano, John P. Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A. Turcotte, Jacob M. Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily G. Farrow, Janda L. Jenkins, Mara L. Becker, Stephen C. Wong, Anne M. Stevens, Catherine Otten, Eric J. Allenspach, Devon E. Bonner, Jonathan A. Bernstein, Matthew T. Wheeler, Robert A. Saxton, Undiagnosed Diseases Network, Bo Liu, Olivia Majer, Gregory M. Barton
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20232005.
https://doi.org/10.1084/jem.20232005
Published: 23 May 2024
View articletitled, Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Open the PDF for Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans in another window
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 articletitled, Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Open the PDF for Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome in another window
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 articletitled, Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Open the PDF for Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome in another window
Includes: Supplementary data