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Journal Articles

Enhanced TLR7-dependent production of type I interferon by pDCs underlies pandemic chilblains

In Special Collection:

Pattern Recognition Receptors and Beyond

Fanny Saidoune, Danyel Lee, Jeremy Di Domizio, Corentin Le Floc’h, Raphael Jenelten, Jérémie Le Pen, Vincent Bondet, Ana Joncic, Marie-Anne Morren, Vivien Béziat, Shen-Ying Zhang, Emmanuelle Jouanguy, Darragh Duffy, Charles M. Rice, Curdin Conrad, Jacques Fellay, Jean-Laurent Casanova, Michel Gilliet, Ahmad Yatim

J Exp Med (2025) 222 (7): e20231467.

https://doi.org/10.1084/jem.20231467

Published: 14 April 2025

View article titled, Enhanced TLR7-dependent production of type I interferon by pDCs underlies pandemic chilblains

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

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

In Special Collection:

Genes and Immunity

J Exp Med (2024) 222 (2): e20241413.

https://doi.org/10.1084/jem.20241413

Published: 16 December 2024

View article titled, A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

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

Journal Articles

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

In Special Collection:

Genes and Immunity

Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Heather R. Jackson, Amedine Duret, Henry Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Oliver Powell, Sophya Yeoh, Sobia Mustafa, Dominic Habgood-Coote, Samuel Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Victoria J. Wright, Diego Estrada-Rivadeneyra, Adriana H. Tremoulet, Kirsten B. Dummer, Stejara A. Netea, Antonio Condino-Neto, Yu Lung Lau, Esmeralda Núñez Cuadros, Julie Toubiana, Marisol Holanda Pena, Frédéric Rieux-Laucat, Charles-Edouard Luyt, Filomeen Haerynck, Jean Louis Mège, Samya Chakravorty, Elie Haddad, Marie-Paule Morin, Özge Metin Akcan, Sevgi Keles, Melike Emiroglu, Gulsum Alkan, Sadiye Kübra Tüter Öz, Sefika Elmas Bozdemir, Guillaume Morelle, Alla Volokha, Yasemin Kendir-Demirkol, Betul Sözeri, Taner Coskuner, Aysun Yahsi, Belgin Gulhan, Saliha Kanik-Yuksek, Gulsum Iclal Bayhan, Aslinur Ozkaya-Parlakay, Osman Yesilbas, Nevin Hatipoglu, Tayfun Ozcelik, Alexandre Belot, Emilie Chopin, Vincent Barlogis, Esra Sevketoglu, Emin Menentoglu, Zeynep Gokce Gayretli Aydin, Marketa Bloomfield, Suzan A. AlKhater, Cyril Cyrus, Yuriy Stepanovskiy, Anastasiia Bondarenko, Fatma Nur Öz, Meltem Polat, Jiří Fremuth, Jan Lebl, Amyrath Geraldo, Emmanuelle Jouanguy, COVID-19 Human Genetic Effort, DIAMONDS, EUCLIDS, Michael J. Carter, Paul Wellman, Mark Peters, Rebeca Pérez de Diego, Lindsey Ann Edwards, Christopher Chiu, Mahdad Noursadeghi, Alexandre Bolze, Chisato Shimizu, Myrsini Kaforou, Melissa Shea Hamilton, Jethro A. Herberg, Erica G. Schmitt, Agusti Rodriguez-Palmero, Aurora Pujol, Jihoon Kim, Aurélie Cobat, Laurent Abel, Shen-Ying Zhang, Jean-Laurent Casanova, Taco W. Kuijpers, Jane C. Burns, Michael Levin, Adrian C. Hayday, Vanessa Sancho-Shimizu

J Exp Med (2024) 221 (12): e920240699.

https://doi.org/10.1084/jem.20240699

Published: 22 November 2024

View article titled, Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Includes: Supplementary data

Journal Articles

Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease

J Exp Med (2024) 221 (12): e20240942.

https://doi.org/10.1084/jem.20240942

Published: 01 November 2024

View article titled, Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease

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

Includes: Supplementary data

Journal Articles

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients

In Special Collection:

Multifaceted B Cell Functions and Dysfunctions

J Exp Med (2024) 221 (10): e20240637.

https://doi.org/10.1084/jem.20240637

Published: 24 September 2024

View article titled, Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients

Includes: Supplementary data

Journal Articles

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Yi-Hao Chan, Vanja Lundberg, Jérémie Le Pen, Jiayi Yuan, Danyel Lee, Francesca Pinci, Stefano Volpi, Koji Nakajima, Vincent Bondet, Sanna Åkesson, Noopur V. Khobrekar, Aaron Bodansky, Likun Du, Tina Melander, Alice-Andrée Mariaggi, Yoann Seeleuthner, Tariq Shikh Saleh, Debanjana Chakravarty, Per Marits, Kerry Dobbs, Sofie Vonlanthen, Viktoria Hennings, Karolina Thörn, Darawan Rinchai, Lucy Bizien, Matthieu Chaldebas, Ali Sobh, Tayfun Özçelik, Sevgi Keles, Suzan A. AlKhater, Carolina Prando, Isabelle Meyts, COVID Human Genetic Effort, Michael R. Wilson, Jérémie Rosain, Emmanuelle Jouanguy, Mélodie Aubart, Laurent Abel, Trine H. Mogensen, Qiang Pan-Hammarström, Daxing Gao, Darragh Duffy, Aurélie Cobat, Stefan Berg, Luigi D. Notarangelo, Oliver Harschnitz, Charles M. Rice, Lorenz Studer, Jean-Laurent Casanova, Olov Ekwall, Shen-Ying Zhang

J Exp Med (2024) 221 (9): e20231725.

https://doi.org/10.1084/jem.20231725

Published: 18 July 2024

View article titled, SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Includes: Supplementary data

Journal Articles

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

In Special Collection:

Genes and Immunity , Immunology Update Winter 2025

J Exp Med (2024) 221 (8): e20232066.

https://doi.org/10.1084/jem.20232066

Published: 13 June 2024

View article titled, Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

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

Journal Articles

Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency

In Special Collection:

Autoimmunity 2024

J Exp Med (2024) 221 (6): e20231704.

https://doi.org/10.1084/jem.20231704

Published: 18 April 2024

View article titled, Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency

Includes: Supplementary data

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

Includes: Supplementary data

Journal Articles

Helper T cell immunity in humans with inherited CD4 deficiency

In Special Collection:

Journal-Based CME Activities with Journal of Experimental Medicine (JEM) , Thymus, T Cell Development, and Inborn Errors , Genes and Immunity

Antoine Guérin, Marcela Moncada-Vélez, Katherine Jackson, Masato Ogishi, Jérémie Rosain, Mathieu Mancini, David Langlais, Andrea Nunez, Samantha Webster, Jesse Goyette, Taushif Khan, Nico Marr, Danielle T. Avery, Geetha Rao, Tim Waterboer, Birgitta Michels, Esmeralda Neves, Cátia Iracema Morais, Jonathan London, Stéphanie Mestrallet, Pierre Quartier dit Maire, Bénédicte Neven, Franck Rapaport, Yoann Seeleuthner, Atar Lev, Amos J. Simon, Jorge Montoya, Ortal Barel, Julio Gómez-Rodríguez, Julio C. Orrego, Anne-Sophie L’Honneur, Camille Soudée, Jessica Rojas, Alejandra C. Velez, Irini Sereti, Benjamin Terrier, Nancy Marin, Luis F. García, Laurent Abel, Stéphanie Boisson-Dupuis, Joel Reis, Antonio Marinho, Andrea Lisco, Emilia Faria, Christopher C. Goodnow, Julia Vasconcelos, Vivien Béziat, Cindy S. Ma, Raz Somech, Jean-Laurent Casanova, Jacinta Bustamante, Jose Luis Franco, Stuart G. Tangye

J Exp Med (2024) 221 (5): e20231044.

https://doi.org/10.1084/jem.20231044

Published: 01 April 2024

View article titled, Helper T cell immunity in humans with inherited CD4 deficiency

Includes: Supplementary data

Journal Articles

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

In Special Collection:

Innate Immune Signaling: From Host Defense to Disease Pathogenesis

Paul Bastard, Adrian Gervais, Maki Taniguchi, Liisa Saare, Karita Särekannu, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Lucy Bizien, Takaki Asano, Marina Garcia-Prat, Alba Parra-Martínez, Mélanie Migaud, Miyuki Tsumura, Francesca Conti, Alexandre Belot, Jacques G. Rivière, Tomohiro Morio, Junko Tanaka, Etienne Javouhey, Filomeen Haerynck, Sotirija Duvlis, Tayfun Ozcelik, Sevgi Keles, Yacine Tandjaoui-Lambiotte, Simon Escoda, Maya Husain, Qiang Pan-Hammarström, Lennart Hammarström, Gloria Ahlijah, Anthony Abi Haidar, Camille Soudee, Vincent Arseguel, Hassan Abolhassani, Sabina Sahanic, Ivan Tancevski, Yoko Nukui, Seiichi Hayakawa, George P. Chrousos, Athanasios Michos, Elizabeth-Barbara Tatsi, Filippos Filippatos, Agusti Rodriguez-Palmero, Jesus Troya, Imran Tipu, Isabelle Meyts, Lucie Roussel, Sisse Rye Ostrowski, Laire Schidlowski, Carolina Prando, Antonio Condino-Neto, Nathalie Cheikh, Ahmed A. Bousfiha, Jalila El Bakkouri, COVID Clinicians, GEN-COVID Study Group, COVID Human Genetic Effort, Pärt Peterson, Aurora Pujol, Romain Lévy, Pierre Quartier, Donald C. Vinh, Bertrand Boisson, Vivien Béziat, Shen-Ying Zhang, Alessandro Borghesi, Andrea Pession, Evangelos Andreakos, Nico Marr, Alexios-Fotios A. Mentis, Trine H. Mogensen, Carlos Rodríguez-Gallego, Pere Soler-Palacin, Roger Colobran, Vallo Tillmann, Bénédicte Neven, Sophie Trouillet-Assant, Petter Brodin, Laurent Abel, Emmanuelle Jouanguy, Qian Zhang, Federico Martinón-Torres, Antonio Salas, Alberto Gómez-Carballa, Luis I. Gonzalez-Granado, Kai Kisand, Satoshi Okada, Anne Puel, Aurélie Cobat, Jean-Laurent Casanova

J Exp Med (2024) 221 (2): e20231353.

https://doi.org/10.1084/jem.20231353

Published: 04 January 2024

View article titled, Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

Journal Articles

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

In Special Collection:

Cytokines Collection 2023

Adrian Gervais, Francesca Rovida, Maria Antonietta Avanzini, Stefania Croce, Astrid Marchal, Shih-Ching Lin, Alessandro Ferrari, Christian W. Thorball, Orianne Constant, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Micol Angelini, Malena Pérez Lorenzo, Lucy Bizien, Cristian Achille, Francesca Trespidi, Elisa Burdino, Irene Cassaniti, Daniele Lilleri, Chiara Fornara, José Camilla Sammartino, Danilo Cereda, Chiara Marrocu, Antonio Piralla, Chiara Valsecchi, Stefano Ricagno, Paola Cogo, Olaf Neth, Inés Marín-Cruz, Monia Pacenti, Alessandro Sinigaglia, Marta Trevisan, Andrea Volpe, Antonio Marzollo, Francesca Conti, Tiziana Lazzarotto, Andrea Pession, Pierluigi Viale, Jacques Fellay, Stefano Ghirardello, Mélodie Aubart, Valeria Ghisetti, Alessandro Aiuti, Emmanuelle Jouanguy, Paul Bastard, Elena Percivalle, Fausto Baldanti, Anne Puel, Margaret R. MacDonald, Charles M. Rice, Giada Rossini, Kristy O. Murray, Yannick Simonin, Anna Nagy, Luisa Barzon, Laurent Abel, Michael S. Diamond, Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent Casanova, Alessandro Borghesi

J Exp Med (2023) 220 (9): e20230661.

https://doi.org/10.1084/jem.20230661

Published: 22 June 2023

View article titled, Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

Journal Articles

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

In Special Collection:

Autoimmunity: From Novel Mechanisms to Treatments

J Exp Med (2023) 220 (9): e20212276.

https://doi.org/10.1084/jem.20212276

Published: 05 June 2023

View article titled, Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

Includes: Supplementary data

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

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M. Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B. Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M. Marco, Claudio Pignata, Aziz Bousfiha, Stuart E. Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M. Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel H. Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro, ESID Registry Working Party, COVID Human Genetic Effort, Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodríguez-Gallego

J Exp Med (2023) 220 (5): e20220170.

https://doi.org/10.1084/jem.20220170

Published: 03 March 2023

View article titled, Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

Includes: Supplementary data

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Enhanced TLR7-dependent production of type I interferon by pDCs underlies pandemic chilblains

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

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

Human DBR1 deficiency impairs stress granule–dependent PKR antiviral immunity

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease

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

Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

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

Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency

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

Helper T cell immunity in humans with inherited CD4 deficiency

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

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

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

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