Alice Lepelley
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Journal Articles

ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype

Florence Assan, Margot Tragin, Sahiti Marella, Joanna Lipecka, Kévin Roger, Mohammed Zarhrate, Vincent Bondet, Vincent Nguyen, Fadela Akroun, Patrick Nitschké, Ida Chiara Guerrera, Christine Bole, Araksya Izmiryan, Maria Emilia Puig-Lombardi, Jennifer Fox, Joseph Kirma, Haihan Zhang, Yiqian Gu, Rachael Bogle, Katia Boniface, Julien Seneschal, Luis Seabra, Alice Lepelley, Marie-Louise Frémond, Nadège Bondurand, Emmauelle Jouanguy, Robert L. Modlin, Jean-Laurent Casanova, Jeremy Di Domizio, Michel Gilliet, Emilie Sbidian, Maxime Battistella, Emmanuel Mahé, Sarah Guégan, Lam C. Tsoi, Pascal Richette, Pascal Claudepierre, Arnaud Rigolet, Claire Giannesini, Antonio Costanzo, Darragh Duffy, Brad R. Rosenberg, Dharshini Sathishkumar, Emmanuelle Bourrat, Chung Hsing Chang, Alain Hovnanian, Johann E. Gudjonsson, Yanick J. Crow, Hervé Bachelez
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (9): e20260054.
https://doi.org/10.1084/jem.20260054
Published: 09 July 2026
View article titled, ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype
Open the PDF for ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype in another window
Includes: Supplementary data
Journal Articles

The STING HAQ haplotype and clinical non-penetrance in COPA syndrome

In Special Collection:
JEM Clinical Immunology Collection 2026
Clémence David, Tifenn Wauquier, Alix de Becdelièvre, Camille Louvrier, Maud Tusseau, Cécile Masson, Luis Seabra, Caroline Kannengiesser, Hayssam Al Arab, Ibrahima Ba, Mary Brennan, Alexandre Belot, Nadia Nathan, Hélène Maillard, Héloïse Reumaux, Jérémie Sellam, Jacques Cadranel, Yves Hatchuel, Laurence Weiss, Sébastien de Almeida, Cinthia Rames, Marie Wislez, Clémentine Vigier, Géraldine Labouret, Claire Kastner, François Provot, Julien Tarabeux, Elise Schaefer, Darragh Duffy, Vincent Bondet, Paul Bastard, Anne Puel, Jean-Laurent Casanova, Gillian I. Rice, Brigitte Bader-Meunier, Yanick J. Crow, Alice Lepelley, Marie-Louise Frémond
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (4): e20251470.
https://doi.org/10.1084/jem.20251470
Published: 10 March 2026
View article titled, The STING HAQ haplotype and clinical non-penetrance in COPA syndrome
Open the PDF for The STING HAQ haplotype and clinical non-penetrance in COPA syndrome in another window
Journal Articles

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

In Special Collection:
Immunology Update Winter 2025 , Genes and Immunity
Clémence David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I. Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Joseph A. Marsh, Jean-Laurent Casanova, Yanick J. Crow, Bénédicte Manoury, Marie-Louise Frémond, Jonathan Bohlen, Alice Lepelley
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20232066.
https://doi.org/10.1084/jem.20232066
Published: 13 June 2024
View article titled, Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus
Open the PDF for Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus in another window
Includes: Supplementary data
Journal Articles

Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

In Special Collection:
Cytokines Collection 2021 , Innate Immunity: From Basic Biology to Human Disease
Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, Lise Waumans, Sylvie Fraitag, Gillian I. Rice, Ashish Dhir, Marie-Louise Frémond, Mathieu P. Rodero, Luis Seabra, Edwin Carter, Christine Bodemer, Daniela Buhas, Bert Callewaert, Pascale de Lonlay, Lien De Somer, David A. Dyment, Fran Faes, Lucy Grove, Simon Holden, Marie Hully, Manju A. Kurian, Hugh J. McMillan, Kristin Suetens, Henna Tyynismaa, Stéphanie Chhun, Timothy Wai, Carine Wouters, Brigitte Bader-Meunier, Yanick J. Crow
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (10): e20201560.
https://doi.org/10.1084/jem.20201560
Published: 13 August 2021
View article titled, Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A
Open the PDF for Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A in another window
Includes: Supplementary data
Journal Articles

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

In Special Collection:
Innate Immune Signaling in Disease and Homeostasis
Alice Lepelley, Maria José Martin-Niclós, Melvin Le Bihan, Joseph A. Marsh, Carolina Uggenti, Gillian I. Rice, Vincent Bondet, Darragh Duffy, Jonny Hertzog, Jan Rehwinkel, Serge Amselem, Siham Boulisfane-El Khalifi, Mary Brennan, Edwin Carter, Lucienne Chatenoud, Stéphanie Chhun, Aurore Coulomb l’Hermine, Marine Depp, Marie Legendre, Karen J. Mackenzie, Jonathan Marey, Catherine McDougall, Kathryn J. McKenzie, Thierry Jo Molina, Bénédicte Neven, Luis Seabra, Caroline Thumerelle, Marie Wislez, Nadia Nathan, Nicolas Manel, Yanick J. Crow, Marie-Louise Frémond
Journal: Journal of Experimental Medicine
J Exp Med (2020) 217 (11): e20200600.
https://doi.org/10.1084/jem.20200600
Published: 28 July 2020
View article titled, Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling
Open the PDF for Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling in another window
Includes: Supplementary data

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