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

Includes: Supplementary data

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

J Exp Med (2024) 221 (11): e20231152.

https://doi.org/10.1084/jem.20231152

Published: 01 October 2024

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

Includes: Supplementary data

Journal Articles

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

J Exp Med (2024) 221 (6): e2023238704302024c.

https://doi.org/10.1084/jem.2023238704302024c

Published: 06 May 2024

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

Journal Articles

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

In Special Collection:

Autoimmunity 2024 , Genes and Immunity , Innate Immune Signaling: From Host Defense to Disease Pathogenesis

J Exp Med (2024) 221 (6): e20232387.

https://doi.org/10.1084/jem.20232387

Published: 02 April 2024

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

Includes: Supplementary data

Journal Articles

SARS-CoV-2 infection and recovery in children: Distinct T cell responses in MIS-C compared to COVID-19

In Special Collection:

Journal-Based CME Activities with Journal of Experimental Medicine (JEM)

Ksenia Rybkina, Joseph N. Bell, Marissa C. Bradley, Teddy Wohlbold, Marika Scafuro, Wenzhao Meng, Rebecca C. Korenberg, Julia Davis-Porada, Brett R. Anderson, Rachel J. Weller, Joshua D. Milner, Anne Moscona, Matteo Porotto, Eline T. Luning Prak, Kalpana Pethe, Thomas J. Connors, Donna L. Farber

J Exp Med (2023) 220 (8): e20221518.

https://doi.org/10.1084/jem.20221518

Published: 03 May 2023

View articletitled, SARS-CoV-2 infection and recovery in children: Distinct T cell responses in MIS-C compared to COVID-19

Includes: Supplementary data

Journal Articles

SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Vanessa Sancho-Shimizu, Petter Brodin, Aurélie Cobat, Catherine M. Biggs, Julie Toubiana, Carrie L. Lucas, Sarah E. Henrickson, Alexandre Belot, MIS-C@CHGE, Stuart G. Tangye, Joshua D. Milner, Michael Levin, Laurent Abel, Dusan Bogunovic, Jean-Laurent Casanova, Shen-Ying Zhang

J Exp Med (2021) 218 (6): e20210446.

https://doi.org/10.1084/jem.20210446

Published: 27 April 2021

View articletitled, SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Includes: Supplementary data

Journal Articles

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

J Exp Med (2020) 218 (3): e20201062.

https://doi.org/10.1084/jem.20201062

Published: 24 November 2020

View articletitled, Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Includes: Supplementary data

Journal Articles

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Vivien Béziat, Simon J. Tavernier, Yin-Huai Chen, Cindy S. Ma, Marie Materna, Arian Laurence, Jens Staal, Dominik Aschenbrenner, Lisa Roels, Lisa Worley, Kathleen Claes, Lisa Gartner, Lisa A. Kohn, Marieke De Bruyne, Klaus Schmitz-Abe, Louis-Marie Charbonnier, Sevgi Keles, Justine Nammour, Natasha Vladikine, Majistor Raj Luxman Maglorius Renkilaraj, Yoann Seeleuthner, Mélanie Migaud, Jérémie Rosain, Mohamed Jeljeli, Bertrand Boisson, Eva Van Braeckel, Jill A. Rosenfeld, Hongzheng Dai, Lindsay C. Burrage, David R. Murdock, Bart N. Lambrecht, Véronique Avettand-Fenoel, Tiphanie P. Vogel, Undiagnosed Diseases Network, Charles R. Esther, Jr., Sule Haskologlu, Figen Dogu, Peter Ciznar, David Boutboul, Marie Ouachée-Chardin, Jean Amourette, Marie-Noëlle Lebras, Clément Gauvain, Colas Tcherakian, Aydan Ikinciogullari, Rudi Beyaert, Laurent Abel, Joshua D. Milner, Bodo Grimbacher, Louis-Jean Couderc, Manish J. Butte, Alexandra F. Freeman, Émilie Catherinot, Claire Fieschi, Talal A. Chatila, Stuart G. Tangye, Holm H. Uhlig, Filomeen Haerynck, Jean-Laurent Casanova, Anne Puel

J Exp Med (2020) 217 (7): e2019180405272020c.

https://doi.org/10.1084/jem.2019180405272020c

Published: 09 June 2020

View articletitled, Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Journal Articles

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

In Special Collection:

Cytokines Collection 2020

J Exp Med (2020) 217 (6): e20191804.

https://doi.org/10.1084/jem.20191804

Published: 24 March 2020

View articletitled, Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Includes: Supplementary data

Journal Articles

Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia

Quang T. Le, Jonathan J. Lyons, Andrea N. Naranjo, Ana Olivera, Robert A. Lazarus, Dean D. Metcalfe, Joshua D. Milner, Lawrence B. Schwartz

J Exp Med (2019) 216 (10): 2348–2361.

https://doi.org/10.1084/jem.20190701

Published: 23 July 2019

View articletitled, Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia

Includes: Supplementary data

Journal Articles

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

In Special Collection:

2019: The Year in Experimental Medicine

J Exp Med (2019) 216 (9): 1986–1998.

https://doi.org/10.1084/jem.20190344

Published: 24 June 2019

View articletitled, Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Includes: Supplementary data

Journal Articles

Primary atopic disorders

In Special Collection:

Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018

Jonathan J. Lyons, Joshua D. Milner

J Exp Med (2018) 215 (4): 1009–1022.

https://doi.org/10.1084/jem.20172306

Published: 16 March 2018

View articletitled, Primary atopic disorders

Journal Articles

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

J Exp Med (2017) 214 (9): 2547–2562.

https://doi.org/10.1084/jem.20161810

Published: 26 July 2017

View articletitled, A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Includes: Supplementary data

Journal Articles

PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients

In Special Collection:

Inborn Errors of Immunity 2019

Yuan Zhang, Chi A. Ma, Monica G. Lawrence, Timothy J. Break, Michael P. O’Connell, Jonathan J. Lyons, Diego B. López, John S. Barber, Yongge Zhao, Daniel L. Barber, Alexandra F. Freeman, Steven M. Holland, Michail S. Lionakis, Joshua D. Milner

J Exp Med (2017) 214 (9): 2523–2533.

https://doi.org/10.1084/jem.20161427

Published: 14 July 2017

View articletitled, PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients

Includes: Supplementary data

Journal Articles

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

J Exp Med (2013) 210 (3): 433–443.

https://doi.org/10.1084/jem.20111229

Published: 25 February 2013

View articletitled, Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

Includes: Supplementary data

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

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

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

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

SARS-CoV-2 infection and recovery in children: Distinct T cell responses in MIS-C compared to COVID-19

SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

Primary atopic disorders

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

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