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Journal Articles

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

In Special Collection:

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 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

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

J Exp Med (2022) 220 (1): e20220484.

https://doi.org/10.1084/jem.20220484

Published: 03 November 2022

View article titled, Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

Includes: Supplementary data

Journal Articles

Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Masato Ogishi, Andrés Augusto Arias, Rui Yang, Ji Eun Han, Peng Zhang, Darawan Rinchai, Joshua Halpern, Jeanette Mulwa, Narelle Keating, Maya Chrabieh, Candice Lainé, Yoann Seeleuthner, Noé Ramírez-Alejo, Nioosha Nekooie-Marnany, Andrea Guennoun, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Sara S. Kilic, Yoshiyuki Minegishi, Stephan Ehl, Petra Kaiser-Labusch, Yasemin Kendir-Demirkol, Flore Rozenberg, Abderrahmane Errami, Shen-Ying Zhang, Qian Zhang, Jonathan Bohlen, Quentin Philippot, Anne Puel, Emmanuelle Jouanguy, Zahra Pourmoghaddas, Shahrzad Bakhtiar, Andre M. Willasch, Gerd Horneff, Genevieve Llanora, Lynette P. Shek, Louis Y.A. Chai, Sen Hee Tay, Hamid H. Rahimi, Seyed Alireza Mahdaviani, Serdar Nepesov, Aziz A. Bousfiha, Emine Hafize Erdeniz, Adem Karbuz, Nico Marr, Carmen Navarrete, Mehdi Adeli, Lennart Hammarstrom, Hassan Abolhassani, Nima Parvaneh, Saleh Al Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Maryam Nourizadeh, Mostafa Moin, Rand Arnaout, Saad Alshareef, Jamila El-Baghdadi, Ferah Genel, Roya Sherkat, Ayça Kiykim, Esra Yücel, Sevgi Keles, Jacinta Bustamante, Laurent Abel, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis

J Exp Med (2022) 219 (10): e20220094.

https://doi.org/10.1084/jem.20220094

Published: 12 September 2022

View article titled, Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Includes: Supplementary data

Journal Articles

Human autoantibodies underlying infectious diseases

In Special Collection:

Innate Immunity: From Basic Biology to Human Disease

Anne Puel, Paul Bastard, Jacinta Bustamante, Jean-Laurent Casanova

J Exp Med (2022) 219 (4): e20211387.

https://doi.org/10.1084/jem.20211387

Published: 23 March 2022

View article titled, Human autoantibodies underlying infectious diseases

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

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

J Exp Med (2021) 218 (11): e20210566.

https://doi.org/10.1084/jem.20210566

Published: 02 September 2021

View article titled, Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Includes: Supplementary data

Journal Articles

Impaired respiratory burst contributes to infections in PKCδ-deficient patients

J Exp Med (2021) 218 (9): e20210501.

https://doi.org/10.1084/jem.20210501

Published: 15 July 2021

View article titled, Impaired respiratory burst contributes to infections in PKCδ-deficient patients

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

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

IL-12 drives functional plasticity of human group 2 innate lymphoid cells

Ai Ing Lim, Silvia Menegatti, Jacinta Bustamante, Lionel Le Bourhis, Matthieu Allez, Lars Rogge, Jean-Laurent Casanova, Hans Yssel, James P. Di Santo

J Exp Med (2016) 213 (4): 569–583.

https://doi.org/10.1084/jem.20151750

Published: 14 March 2016

View article titled, IL-12 drives functional plasticity of human group 2 innate lymphoid cells

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

Journal Articles

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

J Exp Med (2015) 212 (6): 855–864.

https://doi.org/10.1084/jem.20141992

Published: 04 May 2015

View article titled, STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

Journal Articles

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

J Exp Med (2015) 212 (5): 619–631.

https://doi.org/10.1084/jem.20141065

Published: 27 April 2015

View article titled, Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Journal Articles

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

J Exp Med (2013) 210 (12): 2739–2753.

https://doi.org/10.1084/jem.20130323

Published: 11 November 2013

View article titled, Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

Includes: Supplementary data

Journal Articles

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

J Exp Med (2013) 210 (9): 1743–1759.

https://doi.org/10.1084/jem.20130592

Published: 29 July 2013

View article titled, Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

Includes: Supplementary data

Journal Articles

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Luyan Liu, Satoshi Okada, Xiao-Fei Kong, Alexandra Y. Kreins, Sophie Cypowyj, Avinash Abhyankar, Julie Toubiana, Yuval Itan, Magali Audry, Patrick Nitschke, Cécile Masson, Beata Toth, Jérome Flatot, Mélanie Migaud, Maya Chrabieh, Tatiana Kochetkov, Alexandre Bolze, Alessandro Borghesi, Antoine Toulon, Julia Hiller, Stefanie Eyerich, Kilian Eyerich, Vera Gulácsy, Ludmyla Chernyshova, Viktor Chernyshov, Anastasia Bondarenko, Rosa María Cortés Grimaldo, Lizbeth Blancas-Galicia, Ileana Maria Madrigal Beas, Joachim Roesler, Klaus Magdorf, Dan Engelhard, Caroline Thumerelle, Pierre-Régis Burgel, Miriam Hoernes, Barbara Drexel, Reinhard Seger, Theresia Kusuma, Annette F. Jansson, Julie Sawalle-Belohradsky, Bernd Belohradsky, Emmanuelle Jouanguy, Jacinta Bustamante, Mélanie Bué, Nathan Karin, Gizi Wildbaum, Christine Bodemer, Olivier Lortholary, Alain Fischer, Stéphane Blanche, Saleh Al-Muhsen, Janine Reichenbach, Masao Kobayashi, Francisco Espinosa Rosales, Carlos Torres Lozano, Sara Sebnem Kilic, Matias Oleastro, Amos Etzioni, Claudia Traidl-Hoffmann, Ellen D. Renner, Laurent Abel, Capucine Picard, László Maródi, Stéphanie Boisson-Dupuis, Anne Puel, Jean-Laurent Casanova

J Exp Med (2011) 208 (8): 1635–1648.

https://doi.org/10.1084/jem.20110958

Published: 04 July 2011

View article titled, Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Includes: Supplementary data

Journal Articles

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

J Exp Med (2010) 207 (2): 291–297.

https://doi.org/10.1084/jem.20091983

Published: 01 February 2010

View article titled, Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Includes: Supplementary data

NARROW

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

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

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

Human autoantibodies underlying infectious diseases

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

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Impaired respiratory burst contributes to infections in PKCδ-deficient patients

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

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

IL-12 drives functional plasticity of human group 2 innate lymphoid cells

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

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

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