Page 1 | Search Results | Journal of Experimental Medicine

1-20 of 22

Sort by

Sort Order Select

Journal Articles

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

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

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

J Exp Med (2024) 221 (10): e20231562.

https://doi.org/10.1084/jem.20231562

Published: 30 August 2024

View article titled, RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

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

Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

In Special Collection:

2020 Clinical Collection on Viral Infections

J Exp Med (2020) 217 (11): e20192262.

https://doi.org/10.1084/jem.20192262

Published: 18 August 2020

View article titled, Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

Includes: Supplementary data

Journal Articles

Gene therapy for severe combined immunodeficiencies and beyond

Alain Fischer, Salima Hacein-Bey-Abina

J Exp Med (2019) 217 (2): e20190607.

https://doi.org/10.1084/jem.20190607

Published: 11 December 2019

View article titled, Gene therapy for severe combined immunodeficiencies and beyond

Journal Articles

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

Rémy Rodriguez, Benjamin Fournier, Debora Jorge Cordeiro, Sarah Winter, Kazushi Izawa, Emmanuel Martin, David Boutboul, Christelle Lenoir, Sylvie Fraitag, Sven Kracker, Tania H. Watts, Capucine Picard, Julie Bruneau, Isabelle Callebaut, Alain Fischer, Bénédicte Neven, Sylvain Latour

J Exp Med (2019) 216 (12): 2800–2818.

https://doi.org/10.1084/jem.20190678

Published: 19 September 2019

View article titled, Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

Includes: Supplementary data

Journal Articles

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes

In Special Collection:

Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018

Silvia Cerboni, Nadia Jeremiah, Matteo Gentili, Ulf Gehrmann, Cécile Conrad, Marie-Claude Stolzenberg, Capucine Picard, Bénédicte Neven, Alain Fischer, Sébastian Amigorena, Frédéric Rieux-Laucat, Nicolas Manel

J Exp Med (2017) 214 (6): 1769–1785.

https://doi.org/10.1084/jem.20161674

Published: 08 May 2017

View article titled, Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes

Includes: Supplementary data

Journal Articles

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

In Special Collection:

Monogenic Auto-Inflammation and Auto-Immunity in Humans 2018

Kazushi Izawa, Emmanuel Martin, Claire Soudais, Julie Bruneau, David Boutboul, Rémy Rodriguez, Christelle Lenoir, Andrew D. Hislop, Caroline Besson, Fabien Touzot, Capucine Picard, Isabelle Callebaut, Jean-Pierre de Villartay, Despina Moshous, Alain Fischer, Sylvain Latour

J Exp Med (2016) 214 (1): 73–89.

https://doi.org/10.1084/jem.20160784

Published: 23 December 2016

View article titled, Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

Journal Articles

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, Valéry Cormier-Daire, Patrick Revy, Franck Debeurme, Marianne Debré, Patrick Nitschke, Christine Bole-Feysot, Laurence Legeai-Mallet, Annick Lim, Jean-Pierre de Villartay, Capucine Picard, Anne Durandy, Alain Fischer, Geneviève de Saint Basile

J Exp Med (2012) 209 (13): 2323–2330.

https://doi.org/10.1084/jem.20121303

Published: 10 December 2012

View article titled, Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

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

Journal Articles

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

Sophie Péron, Ayse Metin, Pauline Gardès, Marie-Alexandra Alyanakian, Eamonn Sheridan, Christian Peter Kratz, Alain Fischer, Anne Durandy

J Exp Med (2008) 205 (11): 2465–2472.

https://doi.org/10.1084/jem.20080789

Published: 29 September 2008

View article titled, Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

Includes: Supplementary data

Journal Articles

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

J Exp Med (2008) 205 (7): 1543–1550.

https://doi.org/10.1084/jem.20080321

Published: 30 June 2008

View article titled, Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

Includes: Supplementary data

Journal Articles

A human postnatal lymphoid progenitor capable of circulating and seeding the thymus

Emmanuelle M. Six, Delphine Bonhomme, Marta Monteiro, Kheira Beldjord, Monika Jurkowska, Corinne Cordier-Garcia, Alexandrine Garrigue, Liliane Dal Cortivo, Benedita Rocha, Alain Fischer, Marina Cavazzana-Calvo, Isabelle André-Schmutz

J Exp Med (2007) 204 (13): 3085–3093.

https://doi.org/10.1084/jem.20071003

Published: 10 December 2007

View article titled, A human postnatal lymphoid progenitor capable of circulating and seeding the thymus

Includes: Supplementary data

Journal Articles

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

Sophie Péron, Qiang Pan-Hammarström, Kohsuke Imai, Likun Du, Nadine Taubenheim, Ozden Sanal, Laszlo Marodi, Anne Bergelin-Besançon, Malika Benkerrou, Jean-Pierre de Villartay, Alain Fischer, Patrick Revy, Anne Durandy

J Exp Med (2007) 204 (5): 1207–1216.

https://doi.org/10.1084/jem.20070087

Published: 07 May 2007

View article titled, A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

Journal Articles

Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn

Coralie Bloch-Queyrat, Marie-Claude Fondanèche, Riyan Chen, Luo Yin, Francis Relouzat, André Veillette, Alain Fischer, Sylvain Latour

J Exp Med (2005) 202 (1): 181–192.

https://doi.org/10.1084/jem.20050449

Published: 05 July 2005

View article titled, Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn

Includes: Supplementary data

Journal Articles

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil

Bodil Kavli, Sonja Andersen, Marit Otterlei, Nina B. Liabakk, Kohsuke Imai, Alain Fischer, Anne Durandy, Hans E. Krokan, Geir Slupphaug

J Exp Med (2005) 201 (12): 2011–2021.

https://doi.org/10.1084/jem.20050042

Published: 20 June 2005

View article titled, B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil

Journal Articles

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

Benoit Pasquier, Luo Yin, Marie-Claude Fondanèche, Francis Relouzat, Coralie Bloch-Queyrat, Nathalie Lambert, Alain Fischer, Geneviève de Saint-Basile, Sylvain Latour

J Exp Med (2005) 201 (5): 695–701.

https://doi.org/10.1084/jem.20042432

Published: 28 February 2005

View article titled, Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

Journal Articles

Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency : Medical and Immunological Implications

J Exp Med (2003) 197 (4): 527–535.

https://doi.org/10.1084/jem.20021769

Published: 17 February 2003

View article titled, Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency : <subtitle>Medical and Immunological Implications </subtitle>

Journal Articles

Somatic Hypermutation Shapes the Antibody Repertoire of Memory B Cells in Humans

Eric Meffre, Nadia Catalan, Françoise Seltz, Alain Fischer, Michel C. Nussenzweig, Anne Durandy

J Exp Med (2001) 194 (3): 375–378.

https://doi.org/10.1084/jem.194.3.375

Published: 06 August 2001

View article titled, Somatic Hypermutation Shapes the Antibody Repertoire of Memory B Cells in Humans

NARROW

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

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

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

Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

Gene therapy for severe combined immunodeficiencies and beyond

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

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

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

A human postnatal lymphoid progenitor capable of circulating and seeding the thymus

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn

B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency : Medical and Immunological Implications

Somatic Hypermutation Shapes the Antibody Repertoire of Memory B Cells in Humans

Email alerts

Email alerts

This Feature Is Available To Subscribers Only