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Patrick Nitschké
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Journal Articles

ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype

Florence Assan, Margot Tragin, Sahiti Marella, Joanna Lipecka, Kévin Roger, Mohammed Zarhrate, Vincent Bondet, Vincent Nguyen, Fadela Akroun, Patrick Nitschké, Ida Chiara Guerrera, Christine Bole, Araksya Izmiryan, Maria Emilia Puig-Lombardi, Jennifer Fox, Joseph Kirma, Haihan Zhang, Yiqian Gu, Rachael Bogle, Katia Boniface, Julien Seneschal, Luis Seabra, Alice Lepelley, Marie-Louise Frémond, Nadège Bondurand, Emmauelle Jouanguy, Robert L. Modlin, Jean-Laurent Casanova, Jeremy Di Domizio, Michel Gilliet, Emilie Sbidian, Maxime Battistella, Emmanuel Mahé, Sarah Guégan, Lam C. Tsoi, Pascal Richette, Pascal Claudepierre, Arnaud Rigolet, Claire Giannesini, Antonio Costanzo, Darragh Duffy, Brad R. Rosenberg, Dharshini Sathishkumar, Emmanuelle Bourrat, Chung Hsing Chang, Alain Hovnanian, Johann E. Gudjonsson, Yanick J. Crow, Hervé Bachelez
Journal: Journal of Experimental Medicine
J Exp Med (2026) 223 (9): e20260054.
https://doi.org/10.1084/jem.20260054
Published: 09 July 2026
View article titled, ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype
Open the PDF for ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtype in another window
Includes: Supplementary data
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
Journal: Journal of Experimental Medicine
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”)
Open the PDF for Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) 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 article titled, 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

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