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Journal Articles

Rediscovering the human thymus through cutting-edge technologies

In Special Collection:

Autoimmunity 2024

Francesca Pala, Luigi D. Notarangelo, Marita Bosticardo

J Exp Med (2024) 221 (10): e20230892.

https://doi.org/10.1084/jem.20230892

Published: 21 August 2024

View article titled, Rediscovering the human thymus through cutting-edge technologies

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

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

In Special Collection:

Journal-Based CME Activities with Journal of Experimental Medicine (JEM)

Qian Zhang, Andrés Pizzorno, Lisa Miorin, Paul Bastard, Adrian Gervais, Tom Le Voyer, Lucy Bizien, Jeremy Manry, Jérémie Rosain, Quentin Philippot, Kelian Goavec, Blandine Padey, Anastasija Cupic, Emilie Laurent, Kahina Saker, Martti Vanker, Karita Särekannu, COVID Human Genetic Effort, Etablissement Français du Sang Study Group, Constances Cohort, 3C-Dijon Study, Cerba HealthCare Group, Lyon Antigrippe Working Group, REIPI INF Working Group, Tamara García-Salum, Marcela Ferres, Nicole Le Corre, Javier Sánchez-Céspedes, María Balsera-Manzanero, Jordi Carratala, Pilar Retamar-Gentil, Gabriela Abelenda-Alonso, Adoración Valiente, Pierre Tiberghien, Marie Zins, Stéphanie Debette, Isabelle Meyts, Filomeen Haerynck, Riccardo Castagnoli, Luigi D. Notarangelo, Luis I. Gonzalez-Granado, Nerea Dominguez-Pinilla, Evangelos Andreakos, Vasiliki Triantafyllia, Carlos Rodríguez-Gallego, Jordi Solé-Violán, José Juan Ruiz-Hernandez, Felipe Rodríguez de Castro, José Ferreres, Marisa Briones, Joost Wauters, Lore Vanderbeke, Simon Feys, Chen-Yen Kuo, Wei-Te Lei, Cheng-Lung Ku, Galit Tal, Amos Etzioni, Suhair Hanna, Thomas Fournet, Jean-Sebastien Casalegno, Gregory Queromes, Laurent Argaud, Etienne Javouhey, Manuel Rosa-Calatrava, Elisa Cordero, Teresa Aydillo, Rafael A. Medina, Kai Kisand, Anne Puel, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Sophie Trouillet-Assant, Adolfo García-Sastre, Jean-Laurent Casanova

J Exp Med (2022) 219 (11): e20220514.

https://doi.org/10.1084/jem.20220514

Published: 16 September 2022

View article titled, Autoantibodies against type I IFNs in patients with critical influenza pneumonia

Includes: Supplementary data

Journal Articles

Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

In Special Collection:

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

Paul Bastard, Elizaveta Orlova, Leila Sozaeva, Romain Lévy, Alyssa James, Monica M. Schmitt, Sebastian Ochoa, Maria Kareva, Yulia Rodina, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Anna-Lena Neehus, Elana Shaw, Mélanie Migaud, Lucy Bizien, Olov Ekwall, Stefan Berg, Guglielmo Beccuti, Lucia Ghizzoni, Gérard Thiriez, Arthur Pavot, Cécile Goujard, Marie-Louise Frémond, Edwin Carter, Anya Rothenbuhler, Agnès Linglart, Brigite Mignot, Aurélie Comte, Nathalie Cheikh, Olivier Hermine, Lars Breivik, Eystein S. Husebye, Sébastien Humbert, Pierre Rohrlich, Alain Coaquette, Fanny Vuoto, Karine Faure, Nizar Mahlaoui, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Kai Kisand, Elise M.N. Ferré, Thomas DiMaggio, Lindsey B. Rosen, Peter D. Burbelo, Martin McIntyre, Nelli Y. Kann, Anna Shcherbina, Maria Pavlova, Anna Kolodkina, Steven M. Holland, Shen-Ying Zhang, Yanick J. Crow, Luigi D. Notarangelo, Helen C. Su, Laurent Abel, Mark S. Anderson, Emmanuelle Jouanguy, Bénédicte Neven, Anne Puel, Jean-Laurent Casanova, Michail S. Lionakis

J Exp Med (2021) 218 (7): e20210554.

https://doi.org/10.1084/jem.20210554

Published: 23 April 2021

View article titled, Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

Includes: Supplementary data

Journal Articles

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine

In Special Collection:

Antibodies at the Forefront of Disease Treatment , JEM Clinical Immunology Collection 2021

J Exp Med (2021) 218 (4): e20202486.

https://doi.org/10.1084/jem.20202486

Published: 05 February 2021

View article titled, Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine

Includes: Supplementary data

Journal Articles

Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility

J Exp Med (2020) 218 (2): e20200476.

https://doi.org/10.1084/jem.20200476

Published: 27 October 2020

View article titled, Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility

Includes: Supplementary data

Journal Articles

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

J Exp Med (2019) 217 (2): e20191336.

https://doi.org/10.1084/jem.20191336

Published: 16 December 2019

View article titled, Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

Includes: Supplementary data

Journal Articles

Severe influenza pneumonitis in children with inherited TLR3 deficiency

J Exp Med (2019) 216 (9): 2038–2056.

https://doi.org/10.1084/jem.20181621

Published: 19 June 2019

View article titled, Severe influenza pneumonitis in children with inherited TLR3 deficiency

Includes: Supplementary data

Journal Articles

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

In Special Collection:

From Tolerance to Autoimmunity , JEM Immunology Collection 2020

J Exp Med (2019) 216 (6): 1311–1327.

https://doi.org/10.1084/jem.20182304

Published: 30 April 2019

View article titled, Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Includes: Supplementary data

Journal Articles

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

In Special Collection:

Inborn Errors of Immunity 2019

J Exp Med (2018) 215 (10): 2567–2585.

https://doi.org/10.1084/jem.20180628

Published: 24 August 2018

View article titled, Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

Includes: Supplementary data

Journal Articles

HPV: CIB1 is for EVER and EVER

Luigi D. Notarangelo

J Exp Med (2018) 215 (9): 2229–2231.

https://doi.org/10.1084/jem.20181207

Published: 01 August 2018

View article titled, HPV: CIB1 is for EVER and EVER

Journal Articles

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

J Exp Med (2017) 214 (3): 623–637.

https://doi.org/10.1084/jem.20161525

Published: 01 February 2017

View article titled, EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

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

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Nikita S. Kolhatkar, Archana Brahmandam, Christopher D. Thouvenel, Shirly Becker-Herman, Holly M. Jacobs, Marc A. Schwartz, Eric J. Allenspach, Socheath Khim, Anil K. Panigrahi, Eline T. Luning Prak, Adrian J. Thrasher, Luigi D. Notarangelo, Fabio Candotti, Troy R. Torgerson, Ignacio Sanz, David J. Rawlings

J Exp Med (2015) 212 (10): 1663–1677.

https://doi.org/10.1084/jem.20150585

Published: 14 September 2015

View article titled, Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Includes: Supplementary data

Journal Articles

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

J Exp Med (2015) 212 (8): 1185–1202.

https://doi.org/10.1084/jem.20141286

Published: 06 July 2015

View article titled, Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Includes: Supplementary data

Journal Articles

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

J Exp Med (2015) 212 (6): 939–951.

https://doi.org/10.1084/jem.20141130

Published: 25 May 2015

View article titled, Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Includes: Supplementary data

Journal Articles

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

Jean-Laurent Casanova, Mary Ellen Conley, Stephen J. Seligman, Laurent Abel, Luigi D. Notarangelo

J Exp Med (2014) 211 (11): 2137–2149.

https://doi.org/10.1084/jem.20140520

Published: 13 October 2014

View article titled, Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

Journal Articles

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

J Exp Med (2012) 209 (1): 29–34.

https://doi.org/10.1084/jem.20110896

Published: 09 January 2012

View article titled, A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

Includes: Supplementary data

Journal Articles

Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination

Duane R. Wesemann, Jennifer M. Magee, Cristian Boboila, Dinis Pedro Calado, Michael P. Gallagher, Andrew J. Portuguese, John P. Manis, Xiaolong Zhou, Mike Recher, Klaus Rajewsky, Luigi D. Notarangelo, Frederick W. Alt

J Exp Med (2011) 208 (13): 2733–2746.

https://doi.org/10.1084/jem.20111155

Published: 05 December 2011

View article titled, Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination

Journal Articles

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

J Exp Med (2010) 207 (7): 1541–1554.

https://doi.org/10.1084/jem.20091927

Published: 14 June 2010

View article titled, Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

Includes: Supplementary data

NARROW

Rediscovering the human thymus through cutting-edge technologies

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

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine

Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

Severe influenza pneumonitis in children with inherited TLR3 deficiency

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

HPV: CIB1 is for EVER and EVER

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

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

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

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