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Stefano Volpi
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Journal Articles

The common HAQ STING allele prevents clinical penetrance of COPA syndrome

In Special Collection:
Genes and Immunity
Noa Simchoni, Shogo Koide, Maryel Likhite, Yoshihiko Kuchitsu, Senkottuvelan Kadirvel, Christopher S. Law, Brett M. Elicker, Santosh Kurra, Margaret Mei-Kay Wong, Bo Yuan, Alice Grossi, Ronald M. Laxer, Stefano Volpi, Dilan Dissanayake, Tomohiko Taguchi, David B. Beck, Tiphanie P. Vogel, Anthony K. Shum
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (4): e20242179.
https://doi.org/10.1084/jem.20242179
Published: 27 February 2025
View articletitled, The common HAQ STING allele prevents clinical penetrance of COPA syndrome
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Includes: Supplementary data
Journal Articles

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Yi-Hao Chan, Vanja Lundberg, Jérémie Le Pen, Jiayi Yuan, Danyel Lee, Francesca Pinci, Stefano Volpi, Koji Nakajima, Vincent Bondet, Sanna Åkesson, Noopur V. Khobrekar, Aaron Bodansky, Likun Du, Tina Melander, Alice-Andrée Mariaggi, Yoann Seeleuthner, Tariq Shikh Saleh, Debanjana Chakravarty, Per Marits, Kerry Dobbs, Sofie Vonlanthen, Viktoria Hennings, Karolina Thörn, Darawan Rinchai, Lucy Bizien, Matthieu Chaldebas, Ali Sobh, Tayfun Özçelik, Sevgi Keles, Suzan A. AlKhater, Carolina Prando, Isabelle Meyts, COVID Human Genetic Effort, Michael R. Wilson, Jérémie Rosain, Emmanuelle Jouanguy, Mélodie Aubart, Laurent Abel, Trine H. Mogensen, Qiang Pan-Hammarström, Daxing Gao, Darragh Duffy, Aurélie Cobat, Stefan Berg, Luigi D. Notarangelo, Oliver Harschnitz, Charles M. Rice, Lorenz Studer, Jean-Laurent Casanova, Olov Ekwall, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20231725.
https://doi.org/10.1084/jem.20231725
Published: 18 July 2024
View articletitled, SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
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Includes: Supplementary data
Journal Articles

Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus

In Special Collection:
JEM Immunology Collection 2021
Johannes Hartl, Lee Serpas, Yueyang Wang, Ali Rashidfarrokhi, Oriana A. Perez, Benjamin Sally, Vanja Sisirak, Chetna Soni, Alireza Khodadadi-Jamayran, Aristotelis Tsirigos, Ivan Caiello, Claudia Bracaglia, Stefano Volpi, Gian Marco Ghiggeri, Asiya Seema Chida, Ignacio Sanz, Mimi Y. Kim, H. Michael Belmont, Gregg J. Silverman, Robert M. Clancy, Peter M. Izmirly, Jill P. Buyon, Boris Reizis
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (5): e20201138.
https://doi.org/10.1084/jem.20201138
Published: 30 March 2021
View articletitled, Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus
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Includes: Supplementary data
Journal Articles

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

Anthony Lau, Danielle T. Avery, Katherine Jackson, Helen Lenthall, Stefano Volpi, Henry Brigden, Amanda J. Russell, Julia Bier, Joanne H. Reed, Joanne M. Smart, Theresa Cole, Sharon Choo, Paul E. Gray, Lucinda J. Berglund, Peter Hsu, Melanie Wong, Michael O’Sullivan, Kaan Boztug, Isabelle Meyts, Gulbu Uzel, Luigi D. Notarangelo, Robert Brink, Christopher C. Goodnow, Stuart G. Tangye, Elissa K. Deenick
Journal: Journal of Experimental Medicine
J Exp Med (2019) 217 (2): e20191336.
https://doi.org/10.1084/jem.20191336
Published: 16 December 2019
View articletitled, Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production
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Includes: Supplementary data
Journal Articles

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J. Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E. Poulain, Alberto Martini, John Manis, Robert J. Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M. Puck, Juan Carlos Zúñiga-Pflücker, Leonard Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (3): 623–637.
https://doi.org/10.1084/jem.20161525
Published: 01 February 2017
View articletitled, EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
Open the PDF for EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay in another window
Includes: Supplementary data