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Journal Articles

LCK’ed in: Inborn errors of immunity in LCK reveal how TCR signaling is calibrated

Ahmet Eken, Sara A. Johnson, Serife Erdem, Elena W.Y. Hsieh

J Exp Med (2026) 223 (6): e20241046.

https://doi.org/10.1084/jem.20241046

Published: 05 May 2026

View article titled, LCK’ed in: Inborn errors of immunity in LCK reveal how TCR signaling is calibrated

Includes: Supplementary data

Journal Articles

Rethinking disomy: Autosomal expression bias

Dusan Bogunovic

J Exp Med (2026) 223 (4): e20241044.

https://doi.org/10.1084/jem.20241044

Published: 23 March 2026

View article titled, Rethinking disomy: Autosomal expression bias

Journal Articles

Allergic airway reactions rewired by PI3Kδ mutation

Lawrence P. Kane

J Exp Med (2026) 223 (4): e20252509.

https://doi.org/10.1084/jem.20252509

Published: 20 February 2026

View article titled, Allergic airway reactions rewired by PI3Kδ mutation

Journal Articles

A PI3Kδ-Foxo1-FasL signaling amplification loop rewires CD4⁺ T cell signaling and differentiation

In Special Collection:

JEM Immunology Collection 2026

J Exp Med (2026) 223 (4): e20252154.

https://doi.org/10.1084/jem.20252154

Published: 20 February 2026

View article titled, A PI3Kδ-Foxo1-FasL signaling amplification loop rewires CD4+ T cell signaling and differentiation

Includes: Supplementary data

Journal Articles

Monogenic disorders of the IRF transcription factors

In Special Collection:

Innate Immune Signaling in Infection and Disease

Mattison P. Stojcic, Pariya Yousefi, Catherine M. Biggs, Stuart E. Turvey

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

Journal Articles

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

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

Includes: Supplementary data

Journal Articles

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

In Special Collection:

Innate Immune Signaling in Infection and Disease

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

Includes: Supplementary data

Journal Articles

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers

In Special Collection:

Pattern Recognition Receptors and Beyond , 2025: The Year in Experimental Medicine

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

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

Includes: Supplementary data

Journal Articles

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

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

Includes: Supplementary data

Journal Articles

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis

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

Includes: Supplementary data

Journal Articles

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

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

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

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

Journal Articles

Human immunity to fungal infections

In Special Collection:

JEM Clinical Immunology Collection 2025

Donald C. Vinh

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

Journal Articles

Identifying genetic errors of immunity due to mosaicism

In Special Collection:

Genes and Immunity , JEM Clinical Immunology Collection 2025

Elizabeth G. Schmitz, Malachi Griffith, Obi L. Griffith, Megan A. Cooper

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

Journal Articles

Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency

András N. Spaan, Bertrand Boisson, Seth L. Masters

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

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

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

Includes: Supplementary data

Journal Articles

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

In Special Collection:

2025: The Year in Experimental Medicine

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

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

Includes: Supplementary data

Journal Articles

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

In Special Collection:

Genes and Immunity

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

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

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

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

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

Includes: Supplementary data

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LCK’ed in: Inborn errors of immunity in LCK reveal how TCR signaling is calibrated

Rethinking disomy: Autosomal expression bias

Allergic airway reactions rewired by PI3Kδ mutation

A PI3Kδ-Foxo1-FasL signaling amplification loop rewires CD4⁺ T cell signaling and differentiation

Monogenic disorders of the IRF transcription factors

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

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

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers

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

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis

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

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

Human immunity to fungal infections

Identifying genetic errors of immunity due to mosaicism

Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency

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

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

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

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

Human DBR1 deficiency impairs stress granule–dependent PKR antiviral immunity

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