Activated PI3Kinase Delta Syndrome—A Multifaceted Disease
Thouenon, Romane, Moreno-Corona, Nidia, Poggi, Lucie, Durandy, Anne, Kracker, Sven
Published in Frontiers in pediatrics (25.06.2021)
Published in Frontiers in pediatrics (25.06.2021)
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Journal Article
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling
Moreno-Corona, Nidia, Chentout, Loïc, Poggi, Lucie, Thouenon, Romane, Masson, Cecile, Parisot, Melanie, Mouel, Lou Le, Picard, Capucine, André, Isabelle, Cavazzana, Marina, Perrin, Laurence, Durandy, Anne, Azarnoush, Saba, Kracker, Sven
Published in Frontiers in pediatrics (24.06.2021)
Published in Frontiers in pediatrics (24.06.2021)
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Journal Article
A Case Report of Folliculin-Interacting Protein 1 Deficiency
Moreno-Corona, Nidia, Valagussa, Alice, Thouenon, Romane, Fischer, Alain, Kracker, Sven
Published in Journal of clinical immunology (01.11.2023)
Published in Journal of clinical immunology (01.11.2023)
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Journal Article
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency: A neomorphic variant in IRF4 alters transcriptional activity
Thouenon, Romane, Chentout, Loïc, Moreno-Corona, Nidia, Poggi, Lucie, Lombardi, Emilia Puig, Hoareau, Benedicte, Schmitt, Yohann, Lagresle-Peyrou, Chantal, Bustamante, Jacinta Cecilia, André, Isabelle, Cavazzana, Marina, Durandy, Anne, Casanova, Jean-Laurent, Galicier, Lionel, Fadlallah, Jehane, Fischer, Alain, Kracker, Sven
Published in The Journal of experimental medicine (05.06.2023)
Published in The Journal of experimental medicine (05.06.2023)
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Journal Article
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency
Thouenon, Romane, Chentout, Loïc, Moreno-Corona, Nidia, Poggi, Lucie, Lombardi, Emilia Puig, Hoareau, Benedicte, Schmitt, Yohann, Lagresle-Peyrou, Chantal, Bustamante, Jacinta, André, Isabelle, Cavazzana, Marina, Durandy, Anne, Casanova, Jean-Laurent, Galicier, Lionel, Fadlallah, Jehane, Fischer, Alain, Kracker, Sven
Published in The Journal of experimental medicine (05.06.2023)
Published in The Journal of experimental medicine (05.06.2023)
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Journal Article
A combination of cyclophosphamide and interleukin-2 allows CD4+ T cells converted to Tregs to control scurfy syndrome
Delville, Marianne, Bellier, Florence, Leon, Juliette, Klifa, Roman, Lizot, Sabrina, Vinçon, Hélène, Sobrino, Steicy, Thouenon, Romane, Marchal, Armance, Garrigue, Alexandrine, Olivré, Juliette, Charbonnier, Soëli, Lagresle-Peyrou, Chantal, Amendola, Mario, Schambach, Axel, Gross, David, Lamarthée, Baptiste, Benoist, Christophe, Zuber, Julien, André, Isabelle, Cavazzana, Marina, Six, Emmanuelle
Published in Blood (29.04.2021)
Published in Blood (29.04.2021)
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Journal Article
Intracellular Factor H Drives Tumor Progression Independently of the Complement Cascade
Daugan, Marie V, Revel, Margot, Thouenon, Romane, Dragon-Durey, Marie-Agnès, Robe-Rybkine, Tania, Torset, Carine, Merle, Nicolas S, Noé, Rémi, Verkarre, Virginie, Oudard, Stephane Marie, Mejean, Arnaud, Validire, Pierre, Cathelineau, Xavier, Sanchez-Salas, Rafael, Pickering, Mathew C, Cremer, Isabelle, Mansuet-Lupo, Audrey, Alifano, Marco, Sautès-Fridman, Catherine, Damotte, Diane, Fridman, Wolf H, Roumenina, Lubka T
Published in Cancer immunology research (01.08.2021)
Published in Cancer immunology research (01.08.2021)
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Journal Article
A combination of cyclophosphamide and interleukin-2 allows CD4 1 T cells converted to Tregs to control scurfy syndrome
Delville, Marianne, Bellier, Florence, Leon, Juliette, Klifa, Roman, Lizot, Sabrina, Vinçon, Hélène, Sobrino, Steicy, Thouenon, Romane, Marchal, Armance, Garrigue, Alexandrine, Olivré, Juliette, Charbonnier, Soëli, Lagresle-Peyrou, Chantal, Amendola, Mario, Schambach, Axel, Gross, David, Lamarthée, Baptiste, Benoist, Christophe, Zuber, Julien, André, Isabelle, Cavazzana, Marina, Six, Emmanuelle
Published in Blood (29.04.2021)
Published in Blood (29.04.2021)
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Journal Article
A combination of cyclophosphamide and interleukin-2 allows CD4 1 T cells converted to Tregs to control scurfy syndrome
Delville, Marianne, Bellier, Florence, Leon, Juliette, Klifa, Roman, Lizot, Sabrina, Vinçon, Hélène, Sobrino, Steicy, Thouenon, Romane, Marchal, Armance, Garrigue, Alexandrine, Olivré, Juliette, Charbonnier, Soëli, Lagresle-Peyrou, Chantal, Amendola, Mario, Schambach, Axel, Gross, David, Lamarthée, Baptiste, Benoist, Christophe, Zuber, Julien, André, Isabelle, Cavazzana, Marina, Six, Emmanuelle
Published in Blood (29.04.2021)
Published in Blood (29.04.2021)
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Journal Article
USE OF THE F359L MISSENSE IRF4 VARIANT FOR INCREASING THE STABILITY OF REGULATORY T CELLS
THOUENON, Romane, KRACKER, Sven, ZUBER, Julien, AYAS, Nicolas, CHARBONNIER, Soëli, POGGI, Lucie
Year of Publication 14.12.2023
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Year of Publication 14.12.2023
Patent
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling
Moreno-Corona, Nidia, Chentout, Loïc, Poggi, Lucie, Thouenon, Romane, Masson, Cecile, Parisot, Melanie, Mouel, Lou Le, Picard, Capucine, André, Isabelle, Cavazzana, Marina, Perrin, Laurence, Durandy, Anne, Azarnoush, Saba, Kracker, Sven
Published in Frontiers in pediatrics (01.01.2021)
Published in Frontiers in pediatrics (01.01.2021)
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