Interferon Gamma in Sickness Predisposing to Mycobacterial Infectious Diseases by Betül Gemici Karaaslan, Jérémie Rosain, Jacinta Bustamante, Ayça Kıykım

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Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous <i>GBA</i> Mutation by Snežana Minić, Dušan Trpinac, Ivana Novaković, Nataša Cerovac, Danijela Dobrosavljević Vukojević, Jérémie Rosain

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Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies by Carine El Sissy, Jérémie Rosain, Paula Vieira-Martins, Pauline Bordereau, Aurélia Gruber, Magali Devriese, Loïc de Pontual, Muhamed-Kheir Taha, Claire Fieschi, Claire Fieschi, Capucine Picard, Capucine Picard, Véronique Frémeaux-Bacchi, Véronique Frémeaux-Bacchi

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Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome by Filippo Consonni, Solange Moreno, Blanca Vinuales Colell, Marie-Claude Stolzenberg, Alicia Fernandes, Mélanie Parisot, Cécile Masson, Nathalie Neveux, Jérémie Rosain, Sarah Bamberger, Marie-Gabrielle Vigue, Marion Malphettes, Pierre Quartier, Capucine Picard, Frédéric Rieux-Laucat, Aude Magerus

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Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria by Vanessa Daza-Cajigal, Vanessa Daza-Cajigal, Vanessa Daza-Cajigal, Vanessa Daza-Cajigal, Vanessa Daza-Cajigal, Adriana S. Albuquerque, Dan F. Young, Michael J. Ciancanelli, Dale Moulding, Ivan Angulo, Valentine Jeanne-Julien, Valentine Jeanne-Julien, Jérémie Rosain, Jérémie Rosain, Ekaterina Minskaia, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Stéphanie Boisson-Dupuis, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Jacinta Bustamante, Jacinta Bustamante, Jacinta Bustamante, Richard E. Randall, Timothy D. McHugh, Adrian J. Thrasher, Adrian J. Thrasher, Siobhan O. Burns, Siobhan O. Burns

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Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1) by Lucie Heurtier, Hicham Lamrini, Loïc Chentout, Marie-Céline Deau, Amine Bouafia, Jérémie Rosain, Jean-Marc Plaza, Mélanie Parisot, Benoit Dumont, Delphine Turpin, Etienne Merlin, Despina Moshous, Nathalie Aladjidi, Bénédicte Neven, Capucine Picard, Marina Cavazzana, Alain Fischer, Anne Durandy, Jean-Louis Stephan, Sven Kracker

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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds. by Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan

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HOMOZYGOUS CBL MUTATION IN B LYMPHOCYTES AFTER CBL-DRIVEN JMML IMPAIRS B CELL MATURATION, FUNCTION AND ANTIBACTERIAL IMMUNITY by Jonathan Bohlen, Marine Michelet, Federica Barzaghi, Francesco Saettini, Francesca Vendemini, Albert Catala, Laia Alsina, Francesca Conti, Fillippo Consonni, Davide Learndini, Riccardo Masetti, Edoardo Muratore, Francesco Baccelli, Ivan Bagaric, Taja Vatovec, Feroj Seyed, Isabelle Andre, Lori Buetow, Eric Delabesse, Laetitia Largeaud, Cindy Ma, Laurent Abel, Steicy Sobrino, Masato Ogishi, Boris Bessot, Cecile Rouillon, Christine Bole, Yoann Seeleuthner, Tom Le Voyer, Darawan Rinchai, Jeremie Rosain, Peng Zhang, Matthieu Chaldebas, Anna-Lena Neehus, Lucia Erazo, Zarah Janda, Camille Soudee, Chantal Lagrese, Emmanuelle Six, Danny Huang, Stuart Tangye, Vivien Beziat, Eleonora Gambineri, Marinella Veltroni, Miriam Erlacher, Alessandro Aiuti, Marlene Pasquet, Jean-Laurent Casanova, Jacinta Bustamante

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