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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

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

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

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.

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

Published: 08 March 2022

View article titled, A partial form of inherited human USP18 deficiency underlies infection and inflammation

Includes: Supplementary data

Journal Articles

High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

In Special Collection:

Cytokines Collection 2021 , Innate Immunity: From Basic Biology to Human Disease

J Exp Med (2021) 218 (8): e20202726.

https://doi.org/10.1084/jem.20202726

Published: 23 June 2021

View article titled, High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

Journal Articles

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

J Exp Med (2021) 218 (8): e20202592.

https://doi.org/10.1084/jem.20202592

Published: 17 June 2021

View article titled, Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Includes: Supplementary data

Journal Articles

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

Conor Gruber, Marta Martin-Fernandez, Fatima Ailal, Xueer Qiu, Justin Taft, Jennie Altman, Jérémie Rosain, Sofija Buta, Aziz Bousfiha, Jean-Laurent Casanova, Jacinta Bustamante, Dusan Bogunovic

J Exp Med (2020) 217 (5): e20192319.

https://doi.org/10.1084/jem.20192319

Published: 24 February 2020

View article titled, Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

Includes: Supplementary data

Journal Articles

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

In Special Collection:

Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018

J Exp Med (2016) 213 (11): 2413–2435.

https://doi.org/10.1084/jem.20160576

Published: 19 September 2016

View article titled, Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

Includes: Supplementary data

Journal Articles

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4⁺ T cells into distinct effector subsets

J Exp Med (2016) 213 (8): 1589–1608.

https://doi.org/10.1084/jem.20151467

Published: 11 July 2016

View article titled, Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets

Includes: Supplementary data

Journal Articles

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Alexandra Y. Kreins, Michael J. Ciancanelli, Satoshi Okada, Xiao-Fei Kong, Noé Ramírez-Alejo, Sara Sebnem Kilic, Jamila El Baghdadi, Shigeaki Nonoyama, Seyed Alireza Mahdaviani, Fatima Ailal, Aziz Bousfiha, Davood Mansouri, Elma Nievas, Cindy S. Ma, Geetha Rao, Andrea Bernasconi, Hye Sun Kuehn, Julie Niemela, Jennifer Stoddard, Paul Deveau, Aurelie Cobat, Safa El Azbaoui, Ayoub Sabri, Che Kang Lim, Mikael Sundin, Danielle T. Avery, Rabih Halwani, Audrey V. Grant, Bertrand Boisson, Dusan Bogunovic, Yuval Itan, Marcela Moncada-Velez, Ruben Martinez-Barricarte, Melanie Migaud, Caroline Deswarte, Laia Alsina, Daniel Kotlarz, Christoph Klein, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Valerie Cormier-Daire, Stefan Rose-John, Capucine Picard, Lennart Hammarstrom, Anne Puel, Saleh Al-Muhsen, Laurent Abel, Damien Chaussabel, Sergio D. Rosenzweig, Yoshiyuki Minegishi, Stuart G. Tangye, Jacinta Bustamante, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis

J Exp Med (2015) 212 (10): 1641–1662.

https://doi.org/10.1084/jem.20140280

Published: 24 August 2015

View article titled, Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

Includes: Supplementary data

NARROW

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

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

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

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

High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4⁺ T cells into distinct effector subsets

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

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