Jean-Laurent Casanova
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Journal Articles

Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)

In Special Collection:
Journal-Based CME Activities with Journal of Experimental Medicine (JEM)
Conor Gruber, Meredith Ramba, Bineeta Debnath, Lorenzo Cuollo, Anna-Lena Neehus, Angelica Lee, Sofija Buta, Marta Martin-Fernandez, Jérémie Rosain, Laureline Berteloot, Philippe Drabent, Tom Le Voyer, Camille Soudée, Jessica Peel, Yoann Seeleuthner, Anne Puel, Shen-Ying Zhang, Michael J. Ciancanelli, Carlos A. Arango-Franco, Mélanie Migaud, Marie-Louise Frémond, Florence Renaldo, Odile Boespflug-Tanguy, Imen Dorboz, Beatrice Dubern, Tristan Fonteneau, Nima Parvaneh, Rasol Molatefi, Mohammad Shahrooei, Darragh Duffy, Vincent Bondet, Gillian I. Rice, Yanick J. Crow, Thierry Jo Molina, Nathalie Boddaert, Jean-Laurent Casanova, Veronique Houdouin, Isabelle Melki, Alice Hadchouel, Jacinta Bustamante, Dusan Bogunovic
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (8): e20251331.
https://doi.org/10.1084/jem.20251331
Published: 16 July 2026
View article titled, Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)
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Includes: Supplementary data
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
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Includes: Supplementary data
Journal Articles

Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Diana Olguín Calderón, Laura E. Kilpatrick, Clément Conil, Quentin Philippot, Masato Ogishi, Joseph Vellutini, Ji Eun Han, Narelle Keating, Hailun Li, Geetha Rao, Jonathan Bohlen, Charles S. Lay, Simon Platt, Gaspard Kerner, Elsa Feredj, Jessica N. Peel, Mana Momenilandi, Yoann Seeleuthner, Candice Lainé, Camille Soudée, Claire Leloup, Cecile Debuisson, Fanny Lanternier, Samuel Bitoun, Stephan Pavy, Xavier Mariette, Aniss Rafik, Hanaa Skhoun, Hanane El Ouazzani, Ismael Abderahmani-Ghorfi, Jamila El-Baghdadi, Andrés Baena, Manuela Tejada-Giraldo, Luis Fernando Barrera, Andrés Augusto Arias, Giovanna Fabio, Maria Carrabba, Melike Emiroglu, Liliana Bezrodnik, Loubna El Zein, Hassan Hammoud, Peter K. Gregersen, Benjamin Terrier, Rafael Leon Lopez, Marion Touzet, Vincent Pestre, Marlène Pasquet, Lars Rogge, Michael Fayon, François Galode, Eric Jeziorski, Darragh Duffy, Lluis Quintana-Murci, Etienne Patin, Charlotte Cunningham-Rundles, Isabelle Meyts, Shen-Ying Zhang, Qian Zhang, Emmanuelle Jouanguy, Bertrand Boisson, Jérémie Rosain, Vivien Béziat, Mohammad Shahrooei, Seyed Alireza Mahdaviani, Nima Rezaei, Nima Parvaneh, Zahra Chavoshzadeh, Niloufar Yazdanpanah, Nathalie Aladjidi, Antoni Noguera-Julian, Ana Esteve-Solé, Laia Alsina, Davood Mansouri, Sevgi Keles, Mediha Gonenc Ortakoylu, Deniz Aygun, Esra Yucel, Ayca Kiykim, Yildiz Camcioglu, Cindy S. Ma, Stuart G. Tangye, Peng Zhang, Laurent Abel, Peter D. Craggs, Jean-Laurent Casanova, Aurélie Cobat, Anne Puel, Jacinta Bustamante, Stephen J. Hill, Stéphanie Boisson-Dupuis
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (8): e20252236.
https://doi.org/10.1084/jem.20252236
Published: 09 July 2026
View article titled, Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis
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Includes: Supplementary data
Journal Articles

Defects in intron recycling suppress the antiviral response via a mechanism of intronic endogenous dsRNA

Chaorui Duan, Luke Buerer, Cory Bowers, Allison J. Taggart, Mara H. O’Brien, Sarah Gunasekera, Chien-Ling Lin, Jing Wang, Yi Zeng, Jonathan P. Staley, Alger M. Fredericks, Sean F. Monaghan, Anastasia Welch, Nathaniel E. Clark, Daxing Gao, Nico Marr, Shen-Ying Zhang, Jean-Laurent Casanova, William G. Fairbrother
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (4): e20250344.
https://doi.org/10.1084/jem.20250344
Published: 12 March 2026
View article titled, Defects in intron recycling suppress the antiviral response via a mechanism of intronic endogenous dsRNA
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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
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Journal Articles

DOCK8 and STAT3 cooperate to restrain IgE-inducing T follicular helper cells

Emily R. Siniscalco, Courtney Fisher, Meng-Ping Lu, Jessica D.S. Grassmann, Corinne D. Mack, Roukaya Yaakoubi, Danielle Jacobsen, Qian Chen, Donguk Lee, Priya Rajamanimuthu, Tregony Simoneau, Kahn Preece, Paul Gray, Satoshi Okada, Bertrand Boisson, Basak Kayaoglu, Jeffrey Danielson, Alexandra F. Freeman, Jean-Laurent Casanova, Talal A. Chatila, Helen C. Su, Cindy S. Ma, Adam Williams, Stephanie C. Eisenbarth, Uthaman Gowthaman
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (3): e20241707.
https://doi.org/10.1084/jem.20241707
Published: 28 January 2026
View article titled, DOCK8 and STAT3 cooperate to restrain IgE-inducing T follicular helper cells
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Includes: Supplementary data
Journal Articles

Autoantibodies neutralizing type I IFNs in a fatal case of H5N1 avian influenza

Qian Zhang, Taylor S. Conrad, Marcela Moncada-Velez, Kaijun Jiang, Anastasija Cupic, Jonathan Eaton, Kimberley Hutchinson, Adrian Gervais, Ruyue Chen, Anne Puel, Paul Bastard, Aurelie Cobat, Theresa Sokol, Ryan A. Langlois, Lisa Miorin, Adolfo García-Sastre, John A. Vanchiere, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (3): e20251962.
https://doi.org/10.1084/jem.20251962
Published: 05 December 2025
View article titled, Autoantibodies neutralizing type I IFNs in a fatal case of H5N1 avian influenza
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Journal Articles

Autoantibodies neutralizing type I IFNs in patients with fulminant herpes simplex virus hepatitis

In Special Collection:
JEM Clinical Immunology Collection 2026
Adrian Gervais, Astrid Marchal, Soraya Boucherit, Anthony Abi Haidar, Lucy Bizien, Ahmet Yalcinkaya, Ella Sandström, Xiao-Fei Kong, Emmanuel Jacquemin, Olivier Bernard, Dominique Debray, Florence Lacaille, Philippe Ichai, Cigdem Arikan, Etienne Javouhey, Bertrand Roquelaure, Frédéric Gottrand, Francesca Trespidi, Veronica Codullo, Lorenzo Cavagna, Nicolas Schleinitz, Mohamed Bousfiha, Naima Amenzoui, Ahmed Aziz Bousfiha, Sofie E. Jørgensen, Nanna Mørk, Trine H. Mogensen, Paul Bastard, Anne Puel, Alessandro Borghesi, Jody A. Rule, William M. Lee, Nils Landegren, Aurélie Cobat, Jean-Laurent Casanova, Emmanuelle Jouanguy
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (3): e20251760.
https://doi.org/10.1084/jem.20251760
Published: 05 December 2025
View article titled, Autoantibodies neutralizing type I IFNs in patients with fulminant herpes simplex virus hepatitis
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Journal Articles

Enhanced TLR7-dependent production of type I interferon by pDCs underlies pandemic chilblains

In Special Collection:
Pattern Recognition Receptors and Beyond
Fanny Saidoune, Danyel Lee, Jeremy Di Domizio, Corentin Le Floc’h, Raphael Jenelten, Jérémie Le Pen, Vincent Bondet, Ana Joncic, Marie-Anne Morren, Vivien Béziat, Shen-Ying Zhang, Emmanuelle Jouanguy, Darragh Duffy, Charles M. Rice, Curdin Conrad, Jacques Fellay, Jean-Laurent Casanova, Michel Gilliet, Ahmad Yatim
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (7): e20231467.
https://doi.org/10.1084/jem.20231467
Published: 14 April 2025
View article titled, Enhanced TLR7-dependent production of type I interferon by pDCs underlies pandemic chilblains
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Includes: Supplementary data
Journal Articles

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans

In Special Collection:
Genes and Immunity
Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho-Nhat, Tom Le Voyer, Jean-Christophe Debray, Marie-Claude Stolzenberg, Muriel Schmutz, Olivier Pellé, Thomas Becquard, María Rodrigo Riestra, Laureline Berteloot, Mélanie Migaud, Laure Delage, Marie Jeanpierre, Charlotte Boussard, Camille Brunaud, Aude Magérus, Charles Bretot, Victor Michel, Camille Roux, Capucine Picard, Cécile Masson, Christine Bole-Feysot, Nicolas Cagnard, Aurélien Corneau, Isabelle Meyts, Véronique Baud, Jean-Laurent Casanova, Alain Fischer, Emmanuel Dejardin, Anne Puel, Cécile Boulanger, Bénédicte Neven, Frédéric Rieux-Laucat
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (2): e20240843.
https://doi.org/10.1084/jem.20240843
Published: 15 January 2025
View article titled, Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
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Includes: Supplementary data
Journal Articles

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

In Special Collection:
Genes and Immunity
Fahd Al Qureshah, Jérémie Le Pen, Nicole A. de Weerd, Marcela Moncada-Velez, Marie Materna, Daniel C. Lin, Baptiste Milisavljevic, Fernanda Vianna, Lucy Bizien, Lazaro Lorenzo, Marc Lecuit, Jean-David Pommier, Sevgi Keles, Tayfun Ozcelik, Sigifredo Pedraza-Sanchez, Nicolas de Prost, Loubna El Zein, Hassan Hammoud, Lisa F.P. Ng, Rabih Halwani, Narjes Saheb Sharif-Askari, Yu Lung Lau, Anthony R. Tam, Neha Singh, Sagar Bhattad, Yackov Berkun, Wasun Chantratita, Raúl Aguilar-López, Mohammad Shahrooei, COVID-19 HGE Consortium, SEAe Consortium, Laurent Abel, Paul Bastard, Emmanuelle Jouanguy, Vivien Béziat, Peng Zhang, Charles M. Rice, Aurélie Cobat, Shen-Ying Zhang, Paul J. Hertzog, Jean-Laurent Casanova, Qian Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (2): e20241413.
https://doi.org/10.1084/jem.20241413
Published: 16 December 2024
View article titled, A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity
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Includes: Supplementary data
Journal Articles

Human DBR1 deficiency impairs stress granule–dependent PKR antiviral immunity

In Special Collection:
Pattern Recognition Receptors and Beyond
Shuo Ru, Sisi Tang, Hui Xu, Jiahao Yin, Yan Guo, Liuping Song, Zhenyu Jin, Danyel Lee, Yi-Hao Chan, Xingyao Chen, Luke Buerer, William Fairbrother, Weidong Jia, Jean-Laurent Casanova, Shen-Ying Zhang, Daxing Gao
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20240010.
https://doi.org/10.1084/jem.20240010
Published: 05 December 2024
View article titled, Human DBR1 deficiency impairs stress granule–dependent PKR antiviral immunity
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Includes: Supplementary data
Journal Articles

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

In Special Collection:
Genes and Immunity
Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Heather R. Jackson, Amedine Duret, Henry Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Oliver Powell, Sophya Yeoh, Sobia Mustafa, Dominic Habgood-Coote, Samuel Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Victoria J. Wright, Diego Estrada-Rivadeneyra, Adriana H. Tremoulet, Kirsten B. Dummer, Stejara A. Netea, Antonio Condino-Neto, Yu Lung Lau, Esmeralda Núñez Cuadros, Julie Toubiana, Marisol Holanda Pena, Frédéric Rieux-Laucat, Charles-Edouard Luyt, Filomeen Haerynck, Jean Louis Mège, Samya Chakravorty, Elie Haddad, Marie-Paule Morin, Özge Metin Akcan, Sevgi Keles, Melike Emiroglu, Gulsum Alkan, Sadiye Kübra Tüter Öz, Sefika Elmas Bozdemir, Guillaume Morelle, Alla Volokha, Yasemin Kendir-Demirkol, Betul Sözeri, Taner Coskuner, Aysun Yahsi, Belgin Gulhan, Saliha Kanik-Yuksek, Gulsum Iclal Bayhan, Aslinur Ozkaya-Parlakay, Osman Yesilbas, Nevin Hatipoglu, Tayfun Ozcelik, Alexandre Belot, Emilie Chopin, Vincent Barlogis, Esra Sevketoglu, Emin Menentoglu, Zeynep Gokce Gayretli Aydin, Marketa Bloomfield, Suzan A. AlKhater, Cyril Cyrus, Yuriy Stepanovskiy, Anastasiia Bondarenko, Fatma Nur Öz, Meltem Polat, Jiří Fremuth, Jan Lebl, Amyrath Geraldo, Emmanuelle Jouanguy, COVID-19 Human Genetic Effort, DIAMONDS, EUCLIDS, Michael J. Carter, Paul Wellman, Mark Peters, Rebeca Pérez de Diego, Lindsey Ann Edwards, Christopher Chiu, Mahdad Noursadeghi, Alexandre Bolze, Chisato Shimizu, Myrsini Kaforou, Melissa Shea Hamilton, Jethro A. Herberg, Erica G. Schmitt, Agusti Rodriguez-Palmero, Aurora Pujol, Jihoon Kim, Aurélie Cobat, Laurent Abel, Shen-Ying Zhang, Jean-Laurent Casanova, Taco W. Kuijpers, Jane C. Burns, Michael Levin, Adrian C. Hayday, Vanessa Sancho-Shimizu
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e920240699.
https://doi.org/10.1084/jem.20240699
Published: 22 November 2024
View article titled, Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
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Includes: Supplementary data
Journal Articles

Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease

Adrian Gervais, Paul Bastard, Lucy Bizien, Céline Delifer, Pierre Tiberghien, Chaturaka Rodrigo, Francesca Trespidi, Micol Angelini, Giada Rossini, Tiziana Lazzarotto, Francesca Conti, Irene Cassaniti, Fausto Baldanti, Francesca Rovida, Alessandro Ferrari, Davide Mileto, Alessandro Mancon, Laurent Abel, Anne Puel, Aurélie Cobat, Charles M. Rice, Dániel Cadar, Jonas Schmidt-Chanasit, Johannes F. Scheid, Jacob E. Lemieux, Eric S. Rosenberg, Marianna Agudelo, Stuart G. Tangye, Alessandro Borghesi, Guillaume André Durand, Emilie Duburcq-Gury, Braulio M. Valencia, Andrew R. Lloyd, Anna Nagy, Margaret M. MacDonald, Yannick Simonin, Shen-Ying Zhang, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e20240942.
https://doi.org/10.1084/jem.20240942
Published: 01 November 2024
View article titled, Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease
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Journal Articles

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, Axel Cederholm, Laureline Berteloot, Audrey V. Parent, Alessandra Pescatore, Ezia Spinosa, Snezana Minic, Ana Elisa Kiszewski, Miyuki Tsumura, Chloé Thibault, Maria Esnaola Azcoiti, Jelena Martinovic, Quentin Philippot, Taushif Khan, Astrid Marchal, Bénédicte Charmeteau-De Muylder, Lucy Bizien, Caroline Deswarte, Lillia Hadjem, Marie-Odile Fauvarque, Karim Dorgham, Daniel Eriksson, Emilia Liana Falcone, Mathilde Puel, Sinem Ünal, Amyrath Geraldo, Corentin Le Floc’h, Hailun Li, Sylvie Rheault, Christine Muti, Claire Bobrie-Moyrand, Anne Welfringer-Morin, Ramsay L. Fuleihan, Romain Lévy, Marie Roelens, Liwei Gao, Marie Materna, Silvia Pellegrini, Lorenzo Piemonti, Emilie Catherinot, Jean-Christophe Goffard, Arnaud Fekkar, Aissata Sacko-Sow, Camille Soudée, Soraya Boucherit, Anna-Lena Neehus, Cristina Has, Stefanie Hübner, Géraldine Blanchard-Rohner, Blanca Amador-Borrero, Takanori Utsumi, Maki Taniguchi, Hiroo Tani, Kazushi Izawa, Takahiro Yasumi, Sotaro Kanai, Mélanie Migaud, Mélodie Aubart, Nathalie Lambert, Guy Gorochov, Capucine Picard, Claire Soudais, Anne-Sophie L’Honneur, Flore Rozenberg, Joshua D. Milner, Shen-Ying Zhang, Pierre Vabres, Dusan Trpinac, Nico Marr, Nathalie Boddaert, Isabelle Desguerre, Manolis Pasparakis, Corey N. Miller, Cláudia S. Poziomczyk, Laurent Abel, Satoshi Okada, Emmanuelle Jouanguy, Rémi Cheynier, Qian Zhang, Aurélie Cobat, Vivien Béziat, Bertrand Boisson, Julie Steffann, Francesca Fusco, Matilde Valeria Ursini, Smail Hadj-Rabia, Christine Bodemer, Jacinta Bustamante, Hervé Luche, Anne Puel, Gilles Courtois, Paul Bastard, Nils Landegren, Mark S. Anderson, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (11): e20231152.
https://doi.org/10.1084/jem.20231152
Published: 01 October 2024
View article titled, Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
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Includes: Supplementary data
Journal Articles

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients

In Special Collection:
Multifaceted B Cell Functions and Dysfunctions
Adrian Gervais, Astrid Marchal, Andrea Fortova, Michaela Berankova, Lenka Krbkova, Martina Pychova, Jiri Salat, Shuxiang Zhao, Nacim Kerrouche, Tom Le Voyer, Karin Stiasny, Simon Raffl, Anne Schieber Pachart, Samira Fafi-Kremer, Simon Gravier, Davide F. Robbiani, Laurent Abel, Margaret R. MacDonald, Charles M. Rice, Gaia Weissmann, Tarek Kamal Eldin, Eva Robatscher, Elke Maria Erne, Elisabetta Pagani, Alessandro Borghesi, Anne Puel, Paul Bastard, Aurélie Velay, Martin Martinot, Yves Hansmann, Judith H. Aberle, Daniel Ruzek, Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (10): e20240637.
https://doi.org/10.1084/jem.20240637
Published: 24 September 2024
View article titled, Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients
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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 article titled, SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
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Includes: Supplementary data
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
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Includes: Supplementary data
Journal Articles

Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis

Michael E. Horesh, Marta Martin-Fernandez, Conor Gruber, Sofija Buta, Tom Le Voyer, Eve Puzenat, Harry Lesmana, Yiming Wu, Ashley Richardson, David Stein, Stephanie Hodeib, Mariam Youssef, Jacob A. Kurowski, Elizabeth Feuille, Luis A. Pedroza, Ramsay L. Fuleihan, Alexandria Haseley, Alain Hovnanian, Pierre Quartier, Jérémie Rosain, Georgina Davis, Daniel Mullan, O’Jay Stewart, Roosheel Patel, Angelica E. Lee, Rebecca Rubinstein, Leyla Ewald, Nikhil Maheshwari, Virginia Rahming, Ivan K. Chinn, James R. Lupski, Jordan S. Orange, Vanessa Sancho-Shimizu, Jean-Laurent Casanova, Noura S. Abul-Husn, Yuval Itan, Joshua D. Milner, Jacinta Bustamante, Dusan Bogunovic
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e2023238704302024c.
https://doi.org/10.1084/jem.2023238704302024c
Published: 06 May 2024
View article titled, Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
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Journal Articles

Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency

In Special Collection:
Autoimmunity 2024
Matthew B. Johnson, Masato Ogishi, Clara Domingo-Vila, Elisa De Franco, Matthew N. Wakeling, Zineb Imane, Brittany Resnick, Evangelia Williams, Rui Pedro Galão, Richard Caswell, James Russ-Silsby, Yoann Seeleuthner, Darawan Rinchai, Iris Fagniez, Basilin Benson, Matthew J. Dufort, Cate Speake, Megan E. Smithmyer, Michelle Hudson, Rebecca Dobbs, EXE-T1D consortium, Zoe Quandt, Andrew T. Hattersley, Peng Zhang, Stephanie Boisson-Dupuis, Mark S. Anderson, Jean-Laurent Casanova, Timothy I. Tree, Richard A. Oram
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e20231704.
https://doi.org/10.1084/jem.20231704
Published: 18 April 2024
View article titled, Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency
Open the PDF for Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency in another window
Includes: Supplementary data

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