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Journal Articles

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

In Special Collection:
Genes and Immunity
Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho-Nhat, Tom Le Voyer, Jean-Christophe Debray, Marie-Claude Stolzenberg, Muriel Schmutz, Olivier Pellé, Thomas Becquard, María Rodrigo Riestra, Laureline Berteloot, Mélanie Migaud, Laure Delage, Marie Jeanpierre, Charlotte Boussard, Camille Brunaud, Aude Magérus, Charles Bretot, Victor Michel, Camille Roux, Capucine Picard, Cécile Masson, Christine Bole-Feysot, Nicolas Cagnard, Aurélien Corneau, Isabelle Meyts, Véronique Baud, Jean-Laurent Casanova, Alain Fischer, Emmanuel Dejardin, Anne Puel, Cécile Boulanger, Bénédicte Neven, Frédéric Rieux-Laucat
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (2): e20240843.
https://doi.org/10.1084/jem.20240843
Published: 15 January 2025
View articletitled, Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
Open the PDF for Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans in another window
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
Clémence David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I. Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Joseph A. Marsh, Jean-Laurent Casanova, Yanick J. Crow, Bénédicte Manoury, Marie-Louise Frémond, Jonathan Bohlen, Alice Lepelley
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20232066.
https://doi.org/10.1084/jem.20232066
Published: 13 June 2024
View articletitled, Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus
Open the PDF for Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus in another window
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
Journal: Journal of Experimental Medicine
J Exp Med (2011) 208 (8): 1635–1648.
https://doi.org/10.1084/jem.20110958
Published: 04 July 2011
View articletitled, Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Open the PDF for Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis in another window
Includes: Supplementary data