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Journal Articles

Monogenic disorders of the IRF transcription factors

Mattison P. Stojcic, Pariya Yousefi, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 223 (1): e20250939.
https://doi.org/10.1084/jem.20250939
Published: 21 November 2025
View article titled, Monogenic disorders of the IRF transcription factors
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Journal Articles

Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans

Marvin Werner, Jonas Holst Wolff, Justin Taft, Thomas Zillinger, Daniëla M. Hinke, Toke S. Barfod, Kerstin De Keukeleere, Franziska Winzig, Bettina Bundgaard, Ryo Narita, Thomas Wisbech Skov, Julie A. Jensen, Sofie E. Jørgensen, Charlotte S. Jørgensen, Morten K. Skouboe, Ria Lassaunière, Joke H. de Boer, Martin R. Jakobsen, Jacob G. Mikkelsen, Dusan Bogunovic, Søren R. Paludan, Renée M. van der Sluis, Trine H. Mogensen
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (1): e20250492.
https://doi.org/10.1084/jem.20250492
Published: 29 October 2025
View article titled, Genetically heterozygous - transcriptionally homozygous IRF7 deficiency underlies herpesvirus CNS infections in humans
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Includes: Supplementary data
Journal Articles

Role for NF-κB in herpes encephalitis pathology in mice genocopying an inborn error of IRF3-IFN immunity

Manja Idorn, Xiangning Ding, Stefanie Fruhwürth, Søren Holste, Line S. Reinert, Christian S. Skoven, Katarina Türner-Stenström, Alexander Schmitz, Mikkel H. Vendelbo, Benedicte P. Ulhøi, Dzeneta Vizlin-Hodzic, Mona Wefelmeyer, Ryo Narita, Lona J. Kroese, Ivo J. Huijbers, Michelle Møhlenberg, Anne Kruse Hollensen, Xin Lai, Marie B. Iversen, Brian Hansen, Trine H. Mogensen, Søren R. Paludan
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (1): e20250064.
https://doi.org/10.1084/jem.20250064
Published: 09 October 2025
View article titled, Role for NF-κB in herpes encephalitis pathology in mice genocopying an inborn error of IRF3-IFN immunity
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Includes: Supplementary data
Journal Articles

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers

In Special Collection:
Pattern Recognition Receptors and Beyond
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, Meltem Ece Kars, Selket Delafontaine, Verena Kienapfel, Mariia Dzhus, Rik Schrijvers, Petra De Haes, Sofie Struyf, Giorgia Bucciol, Yuval Itan, Alexandre Bolze, Arnout Voet, Anneleen Hombrouck, Leen Moens, Benson Ogunjimi, Isabelle Meyts
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (11): e20250499.
https://doi.org/10.1084/jem.20250499
Published: 27 August 2025
View article titled, Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
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Includes: Supplementary data
Journal Articles

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma

Maggie P. Fu, Mehul Sharma, Pariya Yousefi, Sarah M. Merrill, Ryan Tan, Simran Samra, Audi Setiadi, Liam Golding, Bhavi P. Modi, Kate L. Del Bel, Rebecca J. Deyell, Jacob Rozmus, Wingfield Rehmus, Kyla J. Hildebrand, Elliot James, Géraldine Blanchard-Rohner, Susan Lin, Kevin E. Shopsowitz, Jefferson Terry, Anna F. Lee, Britt I. Drögemöller, Allison Matthews, Maja Tarailo-Graovac, Laura Sauvé, Hana Mitchell, Julie S. Prendiville, Julia L. MacIsaac, Kristy Dever, David T.S. Lin, Mandy Meijer, Colin J.D. Ross, Simon R.M. Dobson, Suzanne M. Vercauteren, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Margaret L. McKinnon, Michael S. Kobor, Stuart E. Turvey, Catherine M. Biggs
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (10): e20240945.
https://doi.org/10.1084/jem.20240945
Published: 31 July 2025
View article titled, ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
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Includes: Supplementary data
Journal Articles

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis

Tomoyuki Iwata, Yoko Mizoguchi, Tetsuya Yoshimoto, Miyuki Tsumura, Fumiaki Sakura, Jeffrey R. Johnson, Shinji Matsuda, Kazuhisa Ouhara, Yukiko Nagatani, Takaki Asano, Hidenori Ohnishi, Zenichiro Kato, Keichiro Mihara, Hirokazu Kanegane, Tomoya Ueda, Shinya Sasaki, Yuri Taniguchi, Yurika Ninomiya, Yoshinori Ohno, Kyoko Suzuki-Takedachi, Yusuke Sotomaru, Tetsushi Sakuma, Takashi Yamamoto, Yukiko Matsuda, Kodai Kume, Terukazu Sanui, Fusanori Nishimura, Mikihito Kajiya, Yasuyoshi Ueki, Hidemi Kurihara, Hiroyuki Morino, Satoshi Okada, Hideshi Kawakami, Noriyoshi Mizuno
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (9): e20231911.
https://doi.org/10.1084/jem.20231911
Published: 15 July 2025
View article titled, Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis
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Includes: Supplementary data
Journal Articles

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis

Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U. Laverty, Arttu Jolma, Rozita Razavi, Ally H.W. Yang, Mihai Albu, Liam Golding, Anna F. Lee, Ryan Tan, Phillip A. Richmond, Marita Bosticardo, Jonathan H. Rayment, Connie L. Yang, Kyla J. Hildebrand, Rae Brager, Michelle K. Demos, Yu-Lung Lau, Luigi D. Notarangelo, Timothy R. Hughes, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241174.
https://doi.org/10.1084/jem.20241174
Published: 20 May 2025
View article titled, A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis
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Includes: Supplementary data
Journal Articles

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency

Riccardo Castagnoli, Francesca Pala, Poorani Subramanian, Cihan Oguz, Benjamin Schwarz, Ai Ing Lim, Andrew S. Burns, Elena Fontana, Marita Bosticardo, Cristina Corsino, Angelina Angelova, Ottavia M. Delmonte, Heather Kenney, Deanna Riley, Grace Smith, Lisa Ott de Bruin, Vasileios Oikonomou, Lucas Dos Santos Dias, Danielle Fink, Eric Bohrnsen, Cole D. Kimzey, Gian Luigi Marseglia, Guisela Alva-Lozada, Jenna R.E. Bergerson, Ana Brett, Karlla W. Brigatti, Dimana Dimitrova, Cullen M. Dutmer, Alexandra F. Freeman, Hanadys Ale, Steven M. Holland, Francesco Licciardi, Srdjan Pasic, Laura E. Poskitt, David E. Potts, Joseph F. Dasso, Svetlana O. Sharapova, Kevin A. Strauss, Brant R. Ward, Melis Yilmaz, Douglas B. Kuhns, Michail S. Lionakis, Stephen R. Daley, Heidi H. Kong, Julia A. Segre, Anna Villa, Stefania Pittaluga, Jolan E. Walter, Ivan Vujkovic-Cvijin, Yasmine Belkaid, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241993.
https://doi.org/10.1084/jem.20241993
Published: 02 May 2025
View article titled, Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency
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Journal Articles

Human immunity to fungal infections

In Special Collection:
JEM Clinical Immunology Collection 2025
Donald C. Vinh
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20241215.
https://doi.org/10.1084/jem.20241215
Published: 15 April 2025
View article titled, Human immunity to fungal infections
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Journal Articles

Identifying genetic errors of immunity due to mosaicism

In Special Collection:
JEM Clinical Immunology Collection 2025 , Genes and Immunity
Elizabeth G. Schmitz, Malachi Griffith, Obi L. Griffith, Megan A. Cooper
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241045.
https://doi.org/10.1084/jem.20241045
Published: 15 April 2025
View article titled, Identifying genetic errors of immunity due to mosaicism
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Journal Articles

Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency

András N. Spaan, Bertrand Boisson, Seth L. Masters
Journal: Journal of Experimental Medicine
Series: Genes and Immunity Focus
J Exp Med (2025) 222 (5): e20241047.
https://doi.org/10.1084/jem.20241047
Published: 15 April 2025
View article titled, Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency
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Journal Articles

Type I interferon autoantibody footprints reveal neutralizing mechanisms and allow inhibitory decoy design

Kevin Groen, Roger Kuratli, Jannik Enkelmann, Sonja Fernbach, Pedro D. Wendel-Garcia, Willy I. Staiger, Marylène Lejeune, Esther Sauras-Colón, Ferran Roche-Campo, Paraskevas Filippidis, Andri Rauch, Swiss HIV Cohort Study, Alexandra Trkola, Huldrych F. Günthard, Roger D. Kouyos, Silvio D. Brugger, Benjamin G. Hale
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20242039.
https://doi.org/10.1084/jem.20242039
Published: 20 March 2025
View article titled, Type I interferon autoantibody footprints reveal neutralizing mechanisms and allow inhibitory decoy design
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Includes: Supplementary data
Journal Articles

Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells

In Special Collection:
Genes and Immunity
Bradly M. Bauman, Jeffrey R. Stinson, Melissa A. Kallarakal, Lei Haley Huang, Andrew M. Frank, Gauthaman Sukumar, Nermina Saucier, Clifton L. Dalgard, Alice Y. Chan, Joshua D. Milner, Megan A. Cooper, Andrew L. Snow
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (6): e20240272.
https://doi.org/10.1084/jem.20240272
Published: 20 March 2025
View article titled, Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells
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Includes: Supplementary data
Journal Articles

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

In Special Collection:
Genes and Immunity
Evi Duthoo, Elien Beyls, Lynn Backers, Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere, Sebastian Riemann, Bram Parton, Likun Du, Veronique Debacker, Marieke De Bruyne, Levi Hoste, Ans Baeyens, Anne Vral, Eva Van Braeckel, Jens Staal, Geert Mortier, Tessa Kerre, Qiang Pan-Hammarström, Claus S. Sørensen, Filomeen Haerynck, Kathleen B.M. Claes, Simon J. Tavernier
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (5): e20241432.
https://doi.org/10.1084/jem.20241432
Published: 03 March 2025
View article titled, Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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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

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

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

In Special Collection:
Genes and Immunity , Tissue Microenvironment and Immune Memory
Elena Blanco, Carme Camps, Sameer Bahal, Mohit D. Kerai, Matteo P. Ferla, Adam M. Rochussen, Adam E. Handel, Zainab M. Golwala, Helena Spiridou Goncalves, Susanne Kricke, Fabian Klein, Fang Zhang, Federica Zinghirino, Grace Evans, Thomas M. Keane, Sabrina Lizot, Maaike A.A. Kusters, Mildred A. Iro, Sanjay V. Patel, Emma C. Morris, Siobhan O. Burns, Ruth Radcliffe, Pradeep Vasudevan, Arthur Price, Olivia Gillham, Gabriel E. Valdebenito, Grant S. Stewart, Austen Worth, Stuart P. Adams, Michael Duchen, Isabelle André, David J. Adams, Giorgia Santili, Kimberly C. Gilmour, Georg A. Holländer, E. Graham Davies, Jenny C. Taylor, Gillian M. Griffiths, Adrian J. Thrasher, Fatima Dhalla, Alexandra Y. Kreins
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20220979.
https://doi.org/10.1084/jem.20220979
Published: 19 November 2024
View article titled, Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency
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Includes: Supplementary data
Journal Articles

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis

In Special Collection:
JEM Clinical Immunology Collection 2025
Sina Ghasempour, Neil Warner, Rei Guan, Marco M. Rodari, Danton Ivanochko, Ryder Whittaker Hawkins, Ashish Marwaha, Jan K. Nowak, Yijing Liang, Daniel J. Mulder, Lorraine Stallard, Michael Li, Daniel D. Yu, Fred G. Pluthero, Vritika Batura, Mo Zhao, Iram Siddiqui, Julia E.M. Upton, Jessie M. Hulst, Walter H.A. Kahr, Roberto Mendoza-Londono, Fabienne Charbit-Henrion, Lies H. Hoefsloot, Anis Khiat, Diana Moreira, Eunice Trindade, Maria do Céu Espinheira, Isabel Pinto Pais, Marjolein J.A. Weerts, Hannie Douben, Daniel Kotlarz, Scott B. Snapper, Christoph Klein, James J. Dowling, Jean-Philippe Julien, Marieke Joosten, Nadine Cerf-Bensussan, Spencer A. Freeman, Marianna Parlato, Tjakko J. van Ham, Aleixo M. Muise
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e20240546.
https://doi.org/10.1084/jem.20240546
Published: 11 November 2024
View article titled, Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
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Includes: Supplementary data
Journal Articles

Finding NEMO in the thymus

Juan Moises Ocampo-Godinez, Alexandra Y. Kreins
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (11): e20241590.
https://doi.org/10.1084/jem.20241590
Published: 21 October 2024
View article titled, Finding NEMO in the thymus
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Journal Articles

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

In Special Collection:
Genes and Immunity
Anne Doye, Paul Chaintreuil, Chantal Lagresle-Peyrou, Ludovic Batistic, Valentine Marion, Patrick Munro, Celine Loubatier, Rayana Chirara, Nataël Sorel, Boris Bessot, Pauline Bronnec, Julie Contenti, Johan Courjon, Valerie Giordanengo, Arnaud Jacquel, Pascal Barbry, Marie Couralet, Nathalie Aladjidi, Alain Fischer, Marina Cavazzana, Coralie Mallebranche, Orane Visvikis, Sven Kracker, Despina Moshous, Els Verhoeyen, Laurent Boyer
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (10): e20231562.
https://doi.org/10.1084/jem.20231562
Published: 30 August 2024
View article titled, RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation
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Includes: Supplementary data