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Journal Articles

Eye on genome editing

Samuel W. Du, Krzysztof Palczewski

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

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

Published: 17 March 2023

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

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.

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

Published: 14 March 2023

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Includes: Supplementary data

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

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.

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

Published: 08 March 2023

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Sidestepping SHP2 inhibition

Bogdan Popescu, Kevin Shannon

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

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

Published: 03 March 2023

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Journal Articles

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

In Special Collection:

Fibrosis Collection 2023

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.

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

Published: 14 February 2023

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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.

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

Published: 14 December 2022

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Chronic TREM2 activation exacerbates Aβ-associated tau seeding and spreading

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

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

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

Published: 11 October 2022

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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.

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

Published: 10 August 2022

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

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

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

Published: 23 June 2022

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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.

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

Published: 15 June 2022

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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.

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

Published: 07 June 2022

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Journal Articles

Inherited TNFSF9 deficiency causes broad Epstein–Barr virus infection with EBV⁺ smooth muscle tumors

In Special Collection:

Mechanisms and Models of Cancer 2022 Update

Benjamin Fournier, Akihiro Hoshino, Julie Bruneau, Camille Bachelet, Mathieu Fusaro, Roman Klifa, Romain Lévy, Christelle Lenoir, Claire Soudais, Capucine Picard, Stéphane Blanche, Martin Castelle, Despina Moshous, Thierry Molina, Anne-Sophie Defachelles, Bénédicte Neven, Sylvain Latour

J Exp Med (2022) 219 (7): e20211682.

DOI: https://doi.org/10.1084/jem.20211682

Published: 03 June 2022

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The X in seX-biased immunity and autoimmune rheumatic disease

Nikhil Jiwrajka, Montserrat C. Anguera

J Exp Med (2022) 219 (6): e20211487.

DOI: https://doi.org/10.1084/jem.20211487

Published: 05 May 2022

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Journal Articles

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

In Special Collection:

JEM Clinical Immunology Collection 2022

J Exp Med (2022) 219 (6): e20212427.

DOI: https://doi.org/10.1084/jem.20212427

Published: 20 April 2022

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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

In Special Collection:

JEM Clinical Immunology Collection 2022

Paul Bastard, Kuang-Chih Hsiao, Qian Zhang, Jeremy Choin, Emma Best, Jie Chen, Adrian Gervais, Lucy Bizien, Marie Materna, Christine Harmant, Maguelonne Roux, Nicola L. Hawley, Daniel E. Weeks, Stephen T. McGarvey, Karla Sandoval, Carmina Barberena-Jonas, Consuelo D. Quinto-Cortés, Erika Hagelberg, Alexander J. Mentzer, Kathryn Robson, Boubacar Coulibaly, Yoann Seeleuthner, Benedetta Bigio, Zhi Li, Gilles Uzé, Sandra Pellegrini, Lazaro Lorenzo, Zineb Sbihi, Sylvain Latour, Marianne Besnard, Tiphaine Adam de Beaumais, Evelyne Jacqz Aigrain, Vivien Béziat, Ranjan Deka, Litara Esera Tulifau, Satupa‘itea Viali, Muagututi‘a Sefuiva Reupena, Take Naseri, Peter McNaughton, Vanessa Sarkozy, Jane Peake, Annaliesse Blincoe, Sarah Primhak, Simon Stables, Kate Gibson, See-Tarn Woon, Kylie Marie Drake, Adrian V.S. Hill, Cheng-Yee Chan, Richard King, Rohan Ameratunga, Iotefa Teiti, Maite Aubry, Van-Mai Cao-Lormeau, Stuart G. Tangye, Shen-Ying Zhang, Emmanuelle Jouanguy, Paul Gray, Laurent Abel, Andrés Moreno-Estrada, Ryan L. Minster, Lluis Quintana-Murci, Andrew C. Wood, Jean-Laurent Casanova

J Exp Med (2022) 219 (6): e20220028.

DOI: https://doi.org/10.1084/jem.20220028

Published: 20 April 2022

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Journal Articles

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis

In Special Collection:

Fibrosis Collection 2023

Joseph Kelich, Tomas Aramburu, Joanne J. van der Vis, Louise Showe, Andrew Kossenkov, Jasper van der Smagt, Maarten Massink, Angela Schoemaker, Eric Hennekam, Marcel Veltkamp, Coline H.M. van Moorsel, Emmanuel Skordalakes

J Exp Med (2022) 219 (5): e20211681.

DOI: https://doi.org/10.1084/jem.20211681

Published: 14 April 2022

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Includes: Supplementary data

Journal Articles

A partial form of inherited human USP18 deficiency underlies infection and inflammation

In Special Collection:

Cytokines Collection 2022 , Innate Immunity: From Basic Biology to Human Disease

J Exp Med (2022) 219 (4): e20211273.

DOI: https://doi.org/10.1084/jem.20211273

Published: 08 March 2022

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FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model

In Special Collection:

Neuroimmunology and Neurodegeneration

Maxence Cornille, Stéphanie Moriceau, Roman H. Khonsari, Yann Heuzé, Léa Loisay, Valérie Boitez, Anne Morice, Eric Arnaud, Corinne Collet, Morad Bensidhoum, Nabil Kaci, Nathalie Boddaert, Giovanna Paternoster, Theresa Rauschendorfer, Sabine Werner, Suzanne L. Mansour, Federico Di Rocco, Franck Oury, Laurence Legeai-Mallet

J Exp Med (2022) 219 (4): e20201879.

DOI: https://doi.org/10.1084/jem.20201879

Published: 07 March 2022

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Journal Articles

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

J Exp Med (2022) 219 (3): e20212148.

DOI: https://doi.org/10.1084/jem.20212148

Published: 26 January 2022

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Journal Articles

Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis

In Special Collection:

2021: The Year in Experimental Medicine , Stem Cell Collection 2022

J Exp Med (2021) 218 (12): e20211872.

DOI: https://doi.org/10.1084/jem.20211872

Published: 26 October 2021

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Includes: Supplementary data

2 3 4 5

NARROW

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

Inherited TNFSF9 deficiency causes broad Epstein–Barr virus infection with EBV⁺ smooth muscle tumors

The X in seX-biased immunity and autoimmune rheumatic disease

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis

A partial form of inherited human USP18 deficiency underlies infection and inflammation

FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis

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