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Journal Articles

pDCs, type 1 IFN, and the female predileXion of SSc

Nikhil Jiwrajka, Montserrat C. Anguera
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (3): e20242284.
https://doi.org/10.1084/jem.20242284
Published: 17 January 2025
View article titled, pDCs, type 1 IFN, and the female predileXion of SSc
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Journal Articles

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

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

The phospholipid kinase PIKFYVE is essential for Th17 differentiation

Douglas S. Prado, Richard T. Cattley, Andreza B. Sonego, Parth Sutariya, Shuxian Wu, Mijoon Lee, William C. Boggess, Mark J. Shlomchik, William F. Hawse
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (2): e20240625.
https://doi.org/10.1084/jem.20240625
Published: 31 December 2024
View article titled, The phospholipid kinase PIKFYVE is essential for Th17 differentiation
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Includes: Supplementary data
Journal Articles

Altered X-chromosome inactivation of the TLR7/8 locus and heterogeneity of pDCs in systemic sclerosis

Yong Du, Bérénice Faz-Lopez, Marie Dominique Ah Kioon, Claire Cenac, Michael Pierides, Kimberly S. Lakin, Robert F. Spiera, Julie Chaumeil, Marie-Elise Truchetet, Jessica K. Gordon, Jean-Charles Guéry, Franck J. Barrat
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (3): e20231809.
https://doi.org/10.1084/jem.20231809
Published: 13 December 2024
View article titled, Altered X-chromosome inactivation of the TLR7/8 locus and heterogeneity of pDCs in systemic sclerosis
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Includes: Supplementary data
Journal Articles

Antiviral immunity lassoed down by excess RNA

Erika Valeri, Anna Kajaste-Rudnitski
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20241743.
https://doi.org/10.1084/jem.20241743
Published: 06 December 2024
View article titled, Antiviral immunity lassoed down by excess RNA
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Journal Articles

The brain–eye connection: More than just action potentials

James Walsh
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (11): e20241519.
https://doi.org/10.1084/jem.20241519
Published: 10 October 2024
View article titled, The brain–eye connection: More than just action potentials
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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

Precursor central memory versus effector cell fate and naïve CD4+ T cell heterogeneity

Deeksha Deep, Herman Gudjonson, Chrysothemis C. Brown, Samuel A. Rose, Roshan Sharma, Yoselin A. Paucar Iza, Seunghee Hong, Saskia Hemmers, Michail Schizas, Zhong-Min Wang, Yuezhou Chen, Duane R. Wesemann, Virginia Pascual, Dana Pe’er, Alexander Y. Rudensky
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (10): e20231193.
https://doi.org/10.1084/jem.20231193
Published: 25 September 2024
View article titled, Precursor central memory versus effector cell fate and naïve CD4<sup>+</sup> T cell heterogeneity
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Includes: Supplementary data
Journal Articles

Targeting TNF/TNFR superfamilies in immune-mediated inflammatory diseases

In Special Collection:
Cytokines Collection 2024
Praveen Krishna Veerasubramanian, Thomas A. Wynn, Jie Quan, Fridrik J. Karlsson
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (11): e20240806.
https://doi.org/10.1084/jem.20240806
Published: 19 September 2024
View article titled, Targeting TNF/TNFR superfamilies in immune-mediated inflammatory diseases
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Includes: Supplementary data
Journal Articles

The partitioning of TCR repertoires by thymic selection

In Special Collection:
Autoimmunity 2024
Wan-Lin Lo, Eric S. Huseby
Journal: Journal of Experimental Medicine
Series: Thymus and T Cell Development Focus
J Exp Med (2024) 221 (10): e20230897.
https://doi.org/10.1084/jem.20230897
Published: 21 August 2024
View article titled, The partitioning of TCR repertoires by thymic selection
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Journal Articles

B cell tolerance and autoimmunity: Lessons from repertoires

In Special Collection:
Autoimmunity 2024 , Immunity Review Series
Jacques Deguine, Ramnik J. Xavier
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20231314.
https://doi.org/10.1084/jem.20231314
Published: 02 August 2024
View article titled, B cell tolerance and autoimmunity: Lessons from repertoires
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Journal Articles

The RNA binding protein Arid5a drives IL-17–dependent autoantibody-induced glomerulonephritis

In Special Collection:
Cytokines Collection 2024
Yang Li, Shachi P. Vyas, Isha Mehta, Nariaki Asada, Ipsita Dey, Tiffany C. Taylor, Rami Bechara, Nilesh Amatya, Felix E.Y. Aggor, Bianca M. Coleman, De-Dong Li, Kenta Yamamoto, Ogechukwu Ezenwa, Yeque Sun, Esta Sterneck, C. Joel McManus, Ulf Panzer, Partha S. Biswas, Ram Savan, Jishnu Das, Sarah L. Gaffen
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20240656.
https://doi.org/10.1084/jem.20240656
Published: 26 July 2024
View article titled, The RNA binding protein Arid5a drives IL-17–dependent autoantibody-induced glomerulonephritis
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Includes: Supplementary data
Journal Articles

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

In Special Collection:
Autoimmunity 2024
Marie Jeanpierre, Jade Cognard, Maud Tusseau, Quentin Riller, Linh-Chi Bui, Jérémy Berthelet, Audrey Laurent, Etienne Crickx, Marianna Parlato, Marie-Claude Stolzenberg, Felipe Suarez, Guy Leverger, Nathalie Aladjidi, Sophie Collardeau-Frachon, Christine Pietrement, Marion Malphettes, Antoine Froissart, Christine Bole-Feysot, Nicolas Cagnard, Fernando Rodrigues Lima, Thierry Walzer, Frédéric Rieux-Laucat, Alexandre Belot, Anne-Laure Mathieu
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20232337.
https://doi.org/10.1084/jem.20232337
Published: 19 July 2024
View article titled, Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus
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Includes: Supplementary data
Journal Articles

Loss of tolerance precedes triggering and lifelong persistence of pathogenic type I interferon autoantibodies

In Special Collection:
Cytokines Collection 2024
Sonja Fernbach, Nina K. Mair, Irene A. Abela, Kevin Groen, Roger Kuratli, Marie Lork, Christian W. Thorball, Enos Bernasconi, Paraskevas Filippidis, Karoline Leuzinger, Julia Notter, Andri Rauch, Hans H. Hirsch, Michael Huber, Huldrych F. Günthard, Jacques Fellay, Roger D. Kouyos, Benjamin G. Hale, The Swiss HIV Cohort Study
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20240365.
https://doi.org/10.1084/jem.20240365
Published: 17 July 2024
View article titled, Loss of tolerance precedes triggering and lifelong persistence of pathogenic type I interferon autoantibodies
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Includes: Supplementary data
Journal Articles

A novel STING variant triggers endothelial toxicity and SAVI disease

In Special Collection:
Immunology Update Winter 2025
Erika Valeri, Sara Breggion, Federica Barzaghi, Monah Abou Alezz, Giovanni Crivicich, Isabel Pagani, Federico Forneris, Claudia Sartirana, Matteo Costantini, Stefania Costi, Achille Marino, Eleonora Chiarotto, Davide Colavito, Rolando Cimaz, Ivan Merelli, Elisa Vicenzi, Alessandro Aiuti, Anna Kajaste-Rudnitski
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20232167.
https://doi.org/10.1084/jem.20232167
Published: 02 July 2024
View article titled, A novel STING variant triggers endothelial toxicity and SAVI disease
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Includes: Supplementary data
Journal Articles

Traffic on the TLR expressway

Justin Taft, Dusan Bogunovic
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20240841.
https://doi.org/10.1084/jem.20240841
Published: 13 June 2024
View article titled, Traffic on the TLR expressway
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Journal Articles

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

In Special Collection:
Immunology Update Winter 2025
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 <em>UNC93B1</em> variants cause systemic lupus erythematosus and chilblain lupus
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Includes: Supplementary data
Journal Articles

A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice

In Special Collection:
Autoimmunity 2024
Kelsey A. Toth, Erica G. Schmitt, Ana Kolicheski, Zev J. Greenberg, Elizabeth Levendosky, Nermina Saucier, Kelsey Trammel, Vasileios Oikonomou, Michail S. Lionakis, Eynav Klechevsky, Brian S. Kim, Laura G. Schuettpelz, Naresha Saligrama, Megan A. Cooper
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20232091.
https://doi.org/10.1084/jem.20232091
Published: 11 June 2024
View article titled, A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice
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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 , 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 article titled, Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
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Includes: Supplementary data
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