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Journal Articles

A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome

J Exp Med (2024) 221 (6): e20231941.

https://doi.org/10.1084/jem.20231941

Published: 23 April 2024

View article titled, A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome

Includes: Supplementary data

Journal Articles

OTULIN and Muller’s morphs

András N. Spaan

J Exp Med (2024) 221 (6): e20240418.

https://doi.org/10.1084/jem.20240418

Published: 23 April 2024

View article titled, OTULIN and Muller’s morphs

Journal Articles

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

In Special Collection:

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

Includes: Supplementary data

Journal Articles

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

In Special Collection:

Innate Immune Signaling: From Host Defense to Disease Pathogenesis

J Exp Med (2024) 221 (5): e20231200.

https://doi.org/10.1084/jem.20231200

Published: 26 March 2024

View article titled, Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

Includes: Supplementary data

Journal Articles

A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice

In Special Collection:

Innate Immune Signaling: From Host Defense to Disease Pathogenesis

J Exp Med (2024) 221 (5): e20221190.

https://doi.org/10.1084/jem.20221190

Published: 22 March 2024

View article titled, A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice

Includes: Supplementary data

Journal Articles

A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation

In Special Collection:

Thymus, T Cell Development, and Inborn Errors , Immunology Update Winter 2024

J Exp Med (2023) 221 (1): e20230927.

https://doi.org/10.1084/jem.20230927

Published: 14 November 2023

View article titled, A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation

Includes: Supplementary data

Journal Articles

ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model

Jung Hwa Lim, Hyun Mi Kang, Dae Hun Kim, Bohyeon Jeong, Da Yong Lee, Jae-Ran Lee, Jeong Yeob Baek, Hyun-Soo Cho, Mi-Young Son, Dae Soo Kim, Nam-Soon Kim, Cho-Rok Jung

J Exp Med (2023) 221 (1): e20230367.

https://doi.org/10.1084/jem.20230367

Published: 07 November 2023

View article titled, ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model

Includes: Supplementary data

Journal Articles

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition

J Exp Med (2023) 220 (11): e20230926.

https://doi.org/10.1084/jem.20230926

Published: 15 September 2023

View article titled, Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition

Includes: Supplementary data

Journal Articles

Inborn errors of human B cell development, differentiation, and function

Stuart G. Tangye, Tina Nguyen, Elissa K. Deenick, Vanessa L. Bryant, Cindy S. Ma

J Exp Med (2023) 220 (7): e20221105.

https://doi.org/10.1084/jem.20221105

Published: 05 June 2023

View article titled, Inborn errors of human B cell development, differentiation, and function

Journal Articles

Eye on genome editing

Samuel W. Du, Krzysztof Palczewski

J Exp Med (2023) 220 (5): e20230146.

https://doi.org/10.1084/jem.20230146

Published: 17 March 2023

View article titled, Eye on genome editing

Journal Articles

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

In Special Collection:

B Cell Biology in Health and Diseases

Romane Thouenon, Loïc Chentout, Nidia Moreno-Corona, Lucie Poggi, Emilia Puig Lombardi, Benedicte Hoareau, Yohann Schmitt, Chantal Lagresle-Peyrou, Jacinta Bustamante, Isabelle André, Marina Cavazzana, Anne Durandy, Jean-Laurent Casanova, Lionel Galicier, Jehane Fadlallah, Alain Fischer, Sven Kracker

J Exp Med (2023) 220 (6): e20221292.

https://doi.org/10.1084/jem.20221292

Published: 14 March 2023

View article titled, A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

Includes: Supplementary data

Journal Articles

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

In Special Collection:

2023: The Year in Experimental Medicine

Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa E. James, Jill R. Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Henry Y. Lu, Gilbert T. Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P. Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A. Sharma, Joshua Dalmann, Robin van der Lee, Géraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip A. Richmond, Jessica J. Lee, Allison Matthews, Michael Seear, Alexandra K. Turvey, Rachael L. Philips, Terri F. Brown-Whitehorn, Christopher J. Gray, Kosuke Izumi, James R. Treat, Kathleen H. Wood, Justin Lack, Asya Khleborodova, Julie E. Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I. van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui Wah Lee, Marco Hok Kung Ho, Brian Hon Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique Bullens, Kate Sauer, Tania Claeys, Catherine M. Biggs, Emma C. Morris, Sergio D. Rosenzweig, John J. O’Shea, Wyeth W. Wasserman, H. Melanie Bedford, Clara D.M. van Karnebeek, Paolo Palma, Siobhan O. Burns, Isabelle Meyts, Jean-Laurent Casanova, Jonathan J. Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L. McKinnon, Yu Lung Lau, Vivien Béziat, Stuart E. Turvey

J Exp Med (2023) 220 (5): e20221755.

https://doi.org/10.1084/jem.20221755

Published: 08 March 2023

View article titled, Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Includes: Supplementary data

Journal Articles

Sidestepping SHP2 inhibition

Bogdan Popescu, Kevin Shannon

J Exp Med (2023) 220 (5): e20230082.

https://doi.org/10.1084/jem.20230082

Published: 03 March 2023

View article titled, Sidestepping SHP2 inhibition

Journal Articles

The genetic background shapes the susceptibility to mitochondrial dysfunction and NASH progression

In Special Collection:

Fibrosis Collection 2023 , Metabolism Signaling

Giorgia Benegiamo, Giacomo V.G. von Alvensleben, Sandra Rodríguez-López, Ludger J.E. Goeminne, Alexis M. Bachmann, Jean-David Morel, Ellen Broeckx, Jing Ying Ma, Vinicius Carreira, Sameh A. Youssef, Nabil Azhar, Dermot F. Reilly, Katharine D’Aquino, Shannon Mullican, Maroun Bou-Sleiman, Johan Auwerx

J Exp Med (2023) 220 (4): e20221738.

https://doi.org/10.1084/jem.20221738

Published: 14 February 2023

View article titled, The genetic background shapes the susceptibility to mitochondrial dysfunction and NASH progression

Includes: Supplementary data

Journal Articles

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Romain Lévy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian S. Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur-Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S. Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M. McDermott, Lucy Cliffe, Ahmet Ozen, Safa Baris, Hemalatha G. Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Cagdas, Roshini S. Abraham, Alan P. Knutsen, Borre Fevang, Sagar Bhattad, Ayca Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Unal, Ashish Kumar, Christoph B. Geier, Ulrich Baumann, Bénédicte Neven, CARMIL2 Consortium, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean-Laurent Casanova, Fabian Hauck, Vivien Béziat

J Exp Med (2022) 220 (2): e20220275.

https://doi.org/10.1084/jem.20220275

Published: 14 December 2022

View article titled, Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Includes: Supplementary data

Journal Articles

Chronic TREM2 activation exacerbates Aβ-associated tau seeding and spreading

In Special Collection:

Neuroscience Collection 2023 , Neuroimmunology and Neurodegeneration 2023

Nimansha Jain, Caroline A. Lewis, Jason D. Ulrich, David M. Holtzman

J Exp Med (2022) 220 (1): e20220654.

https://doi.org/10.1084/jem.20220654

Published: 11 October 2022

View article titled, Chronic TREM2 activation exacerbates Aβ-associated tau seeding and spreading

Includes: Supplementary data

Journal Articles

Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

In Special Collection:

Neuroscience Collection 2022 , Tolerance and Autoimmunity

J Exp Med (2022) 219 (9): e20220498.

https://doi.org/10.1084/jem.20220498

Published: 10 August 2022

View article titled, Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

Includes: Supplementary data

Journal Articles

Highly protective antimalarial antibodies via precision library generation and yeast display screening

J Exp Med (2022) 219 (8): e20220323.

https://doi.org/10.1084/jem.20220323

Published: 23 June 2022

View article titled, Highly protective antimalarial antibodies via precision library generation and yeast display screening

Includes: Supplementary data

Journal Articles

Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT

Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon-Roberts, Annie L.A. Nguyen, TianMeng Xu, Camila Pará, Yojiro Yamanaka, David A. Priestman, Frances M. Platt, Shaukat Khan, Nidhi Fnu, Shunji Tomatsu, Carlos R. Morales, Alexey V. Pshezhetsky

J Exp Med (2022) 219 (8): e20211860.

https://doi.org/10.1084/jem.20211860

Published: 15 June 2022

View article titled, Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT

Includes: Supplementary data

Journal Articles

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

In Special Collection:

JEM Mucosal Immunology 2022

J Exp Med (2022) 219 (7): e20220202.

https://doi.org/10.1084/jem.20220202

Published: 07 June 2022

View article titled, Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Includes: Supplementary data

NARROW

A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome

OTULIN and Muller’s morphs

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

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice

A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation

ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition

Inborn errors of human B cell development, differentiation, and function

Eye on genome editing

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Sidestepping SHP2 inhibition

The genetic background shapes the susceptibility to mitochondrial dysfunction and NASH progression

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Chronic TREM2 activation exacerbates Aβ-associated tau seeding and spreading

Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

Highly protective antimalarial antibodies via precision library generation and yeast display screening

Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

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