Search

Your search keyword '"Deswarte, Caroline"' showing total 14 results
Start Over Author "Deswarte, Caroline" Publication Year Range Last 3 years
14 results on '"Deswarte, Caroline"'

1. New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome

Author

Arlabosse, Tiphaine, Materna, Marie, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs, Deswarte, Caroline, Lévy, Romain, Distefano, Marco, Bustamante, Jacinta, Roelens, Marie, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean-Laurent, Puel, Anne, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien, and Candotti, Fabio

Published
2023
Full Text
View/download PDF

2. FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice

Author

Momenilandi, Mana, Lévy, Romain, Sobrino, Steicy, Li, Jingwei, Lagresle-Peyrou, Chantal, Esmaeilzadeh, Hossein, Fayand, Antoine, Le Floc’h, Corentin, Guérin, Antoine, Della Mina, Erika, Shearer, Debra, Delmonte, Ottavia M., Yatim, Ahmad, Mulder, Kevin, Mancini, Mathieu, Rinchai, Darawan, Denis, Adeline, Neehus, Anna-Lena, Balogh, Karla, Brendle, Sarah, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Seeleuthner, Yoann, Deswarte, Caroline, Bessot, Boris, Cremades, Cassandre, Materna, Marie, Cederholm, Axel, Ogishi, Masato, Philippot, Quentin, Beganovic, Omer, Ackermann, Mania, Wuyts, Margareta, Khan, Taushif, Fouéré, Sébastien, Herms, Florian, Chanal, Johan, Palterer, Boaz, Bruneau, Julie, Molina, Thierry J., Leclerc-Mercier, Stéphanie, Prétet, Jean-Luc, Youssefian, Leila, Vahidnezhad, Hassan, Parvaneh, Nima, Claeys, Kristl G., Schrijvers, Rik, Luka, Marine, Pérot, Philippe, Fourgeaud, Jacques, Nourrisson, Céline, Poirier, Philippe, Jouanguy, Emmanuelle, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Notarangelo, Luigi D., Christensen, Neil, Landegren, Nils, Abel, Laurent, Marr, Nico, Six, Emmanuelle, Langlais, David, Waterboer, Tim, Ginhoux, Florent, Ma, Cindy S., Tangye, Stuart G., Meyts, Isabelle, Lachmann, Nico, Hu, Jiafen, Shahrooei, Mohammad, Bossuyt, Xavier, Casanova, Jean-Laurent, and Béziat, Vivien

Published
2024
Full Text
View/download PDF

3. Modulation of bone marrow and peripheral blood cytokine levels by age and clonal hematopoiesis in healthy individuals

Author

Ravalet, Noémie, Guermouche, Hélène, Hirsch, Pierre, Picou, Frédéric, Foucault, Amélie, Gallay, Nathalie, Martignoles, Jean-Alain, Beaud, Jenny, Suner, Ludovic, Deswarte, Caroline, Lachot, Sébastien, Rault, Emmanuelle, Largeaud, Laëtitia, Gissot, Valérie, Béné, Marie-Christine, Gyan, Emmanuel, Delhommeau, François, and Herault, Olivier

Published
2023
Full Text
View/download PDF

4. Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome

Author

Arlabosse, Tiphaine, Materna, Marie, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs, Deswarte, Caroline, Lévy, Romain, Distefano, Marco, Bustamante, Jacinta, Roelens, Marie, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean‑Laurent, Puel, Anne, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien, and Candotti, Fabio

Published
2023
Full Text
View/download PDF

5. Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

Author

Pegliasco, Jean, Hirsch, Pierre, Marzac, Christophe, Isnard, Françoise, Meniane, Jean-Côme, Deswarte, Caroline, Pellet, Philippe, Lemaitre, Céline, Leroy, Gwendoline, Rabadan Moraes, Graciela, Guermouche, Hélène, Schmaltz-Panneau, Barbara, Pasquier, Florence, Colas, Chrystelle, Benusiglio, Patrick R., Bera, Odile, Bourhis, Jean-Henri, Brissot, Eolia, Caron, Olivier, Chraibi, Samy, Cony-Makhoul, Pascale, Delaunay-Darivon, Christine, Lapusan, Simona, de Fontbrune, Flore Sicre, Fuseau, Pascal, Najman, Albert, Vainchenker, William, Delhommeau, François, Micol, Jean-Baptiste, Plo, Isabelle, and Bellanné-Chantelot, Christine

Published
2022
Full Text
View/download PDF

6. The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Author

Materna, Marie, primary, Delmonte, Ottavia M., additional, Bosticardo, Marita, additional, Momenilandi, Mana, additional, Conrey, Peyton E., additional, Charmeteau-De Muylder, Bénédicte, additional, Bravetti, Clotilde, additional, Bellworthy, Rebecca, additional, Cederholm, Axel, additional, Staels, Frederik, additional, Ganoza, Christian A., additional, Darko, Samuel, additional, Sayed, Samir, additional, Le Floc’h, Corentin, additional, Ogishi, Masato, additional, Rinchai, Darawan, additional, Guenoun, Andrea, additional, Bolze, Alexandre, additional, Khan, Taushif, additional, Gervais, Adrian, additional, Krüger, Renate, additional, Völler, Mirjam, additional, Palterer, Boaz, additional, Sadeghi-Shabestari, Mahnaz, additional, Langlois de Septenville, Anne, additional, Schramm, Chaim A., additional, Shah, Sanjana, additional, Tello-Cajiao, John J., additional, Pala, Francesca, additional, Amini, Kayla, additional, Campos, Jose S., additional, Lima, Noemia Santana, additional, Eriksson, Daniel, additional, Lévy, Romain, additional, Seeleuthner, Yoann, additional, Jyonouchi, Soma, additional, Ata, Manar, additional, Al Ali, Fatima, additional, Deswarte, Caroline, additional, Pereira, Anaïs, additional, Mégret, Jérôme, additional, Le Voyer, Tom, additional, Bastard, Paul, additional, Berteloot, Laureline, additional, Dussiot, Michaël, additional, Vladikine, Natasha, additional, Cardenas, Paula P., additional, Jouanguy, Emmanuelle, additional, Alqahtani, Mashael, additional, Hasan, Amal, additional, Thanaraj, Thangavel Alphonse, additional, Rosain, Jérémie, additional, Al Qureshah, Fahd, additional, Sabato, Vito, additional, Alyanakian, Marie Alexandra, additional, Leruez-Ville, Marianne, additional, Rozenberg, Flore, additional, Haddad, Elie, additional, Regueiro, Jose R., additional, Toribio, Maria L., additional, Kelsen, Judith R., additional, Salehi, Mansoor, additional, Nasiri, Shahram, additional, Torabizadeh, Mehdi, additional, Rokni-Zadeh, Hassan, additional, Changi-Ashtiani, Majid, additional, Vatandoost, Nasimeh, additional, Moravej, Hossein, additional, Akrami, Seyed Mohammad, additional, Mazloomrezaei, Mohsen, additional, Cobat, Aurélie, additional, Meyts, Isabelle, additional, Toyofuku, Etsushi, additional, Nishimura, Madoka, additional, Moriya, Kunihiko, additional, Mizukami, Tomoyuki, additional, Imai, Kohsuke, additional, Abel, Laurent, additional, Malissen, Bernard, additional, Al-Mulla, Fahd, additional, Alkuraya, Fowzan Sami, additional, Parvaneh, Nima, additional, von Bernuth, Horst, additional, Beetz, Christian, additional, Davi, Frédéric, additional, Douek, Daniel C., additional, Cheynier, Rémi, additional, Langlais, David, additional, Landegren, Nils, additional, Marr, Nico, additional, Morio, Tomohiro, additional, Shahrooei, Mohammad, additional, Schrijvers, Rik, additional, Henrickson, Sarah E., additional, Luche, Hervé, additional, Notarangelo, Luigi D., additional, Casanova, Jean-Laurent, additional, and Béziat, Vivien, additional

Published
2024
Full Text
View/download PDF

7. Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Author

Hirsch, Pierre, Lambert, Jérôme, Bucci, Maxime, Deswarte, Caroline, Boudry, Augustin, Lambert, Juliette, Fenwarth, Laurene, Micol, Jean-Baptiste, Terré, Christine, Celli-Lebras, Karine, Thomas, Xavier, Dombret, Hervé, Duployez, Nicolas, Preudhomme, Claude, Itzykson, Raphael, and Delhommeau, Francois

Subjects
ACUTE myeloid leukemia, PRELEUKEMIA, NUCLEOTIDE sequencing
Abstract

The evaluation of measurable residual disease (MRD) in acute myeloid leukemia (AML) using comprehensive mutation analysis by next-generation sequencing (NGS) has been investigated in several studies. However controversial results exist regarding the detection of persisting mutations in DNMT3A, TET2, and ASXL1 (DTA). Benchmarking of NGS-MRD taking into account other molecular MRD strategies has to be done. Here, we performed error-corrected-NGS-MRD in 189 patients homogeneously treated in the ALFA-0702 study (NCT00932412). Persistence of non-DTA mutations (HR = 2.23 for RFS and 2.26 for OS), and DTA mutations (HR = 2.16 for OS) were associated with poorer prognosis in multivariate analysis. Persistence of at least two mutations in complete remission (CR) was associated with a higher cumulative incidence of relapse (CIR) (HR = 3.71, p < 0.0001), lower RFS (HR = 3.36, p < 0.0001) and OS (HR = 3.81, p = 0.00023) whereas persistence of only one mutation was not. In 100 analyzable patients, WT1-MRD, but not NGS-MRD, was an independent factor for RFS and OS. In the subset of 67 NPM1 mutated patients, both NPM1 mutation detection (p = 0.0059) and NGS-MRD (p = 0.035) status were associated with CIR. We conclude that detectable NGS-MRD including DTA mutations correlates with unfavorable prognosis in AML. Its integration with alternative MRD strategies in AML management warrants further investigations. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

8. Persistence of Mutations in Complete Remission Including DNMT3A, TET2 and ASXL1 Mutations Is Associated with Worse Prognosis in Patients with Acute Myeloid Leukemia Treated in ALFA 0702 Study

Author

Hirsch, Pierre, primary, Lambert, Jérôme, additional, Bucci, Maxime, additional, Deswarte, Caroline, additional, Lambert, Juliette, additional, Fenwarth, Laurène, additional, Dombret, Herve, additional, Duployez, Nicolas, additional, Preudhomme, Claude, additional, Itzykson, Raphael, additional, and Delhommeau, Francois, additional

Published
2022
Full Text
View/download PDF

9. Prognostic impact of early minimal residual disease combined with complete molecular evaluation in acute myeloid leukemia with mutated NPM1: a single center study

Author

Memoli, Mara, primary, Genthon, Alexis, additional, Favale, Fabrizia, additional, Lapusan, Simona, additional, Johnson, Natacha, additional, Adaeva, Rosa, additional, Deswarte, Caroline, additional, Battipaglia, Giorgia, additional, Malard, Florent, additional, Duléry, Rémy, additional, Brissot, Eolia, additional, Banet, Anne, additional, Van de Wyngaert, Zoé, additional, Mohty, Mohamad, additional, Delhommeau, François, additional, Legrand, Ollivier, additional, and Hirsch, Pierre, additional

Published
2022
Full Text
View/download PDF

10. A partial form of inherited human USP18 deficiency underlies infection and inflammation

Author

Martin-Fernandez, Marta, primary, Buta, Sofija, additional, Le Voyer, Tom, additional, Li, Zhi, additional, Dynesen, Lasse Toftdal, additional, Vuillier, Françoise, additional, Franklin, Lina, additional, Ailal, Fatima, additional, Muglia Amancio, Alice, additional, Malle, Louise, additional, Gruber, Conor, additional, Benhsaien, Ibtihal, additional, Altman, Jennie, additional, Taft, Justin, additional, Deswarte, Caroline, additional, Roynard, Manon, additional, Nieto-Patlan, Alejandro, additional, Moriya, Kunihiko, additional, Rosain, Jérémie, additional, Boddaert, Nathalie, additional, Bousfiha, Aziz, additional, Crow, Yanick J., additional, Jankovic, Dragana, additional, Sher, Alan, additional, Casanova, Jean-Laurent, additional, Pellegrini, Sandra, additional, Bustamante, Jacinta, additional, and Bogunovic, Dusan, additional

Published
2022
Full Text
View/download PDF

11. Reference Values of Human Bone Marrow and Peripheral Blood Levels of 49 Cytokines According to Age and Clonal Hematopoiesis

Author

Ravalet, Noemie, primary, Guermouche, Hélène, additional, Hirsch, Pierre, additional, Picou, Frederic, additional, Gallay, Nathalie, additional, Foucault, Amelie, additional, Beaud, Jenny, additional, Gissot, Valérie, additional, Martignoles, Jean-Alain, additional, Suner, Ludovic, additional, Deswarte, Caroline, additional, Lachot, Sebastien, additional, Rault, Emmanuelle, additional, Largeaud, Laetitia, additional, Gyan, Emmanuel, additional, Delhommeau, Francois, additional, and Herault, Olivier, additional

Published
2021
Full Text
View/download PDF

12. Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

Author

Rosain, Jérémie, Le Voyer, Tom, Liu, Xian, Gervais, Adrian, Polivka, Laura, Cederholm, Axel, Berteloot, Laureline, Parent, Audrey V., Pescatore, Alessandra, Spinosa, Ezia, Minic, Snezana, Kiszewski, Ana Elisa, Tsumura, Miyuki, Thibault, Chloé, Esnaola Azcoiti, Maria, Martinovic, Jelena, Philippot, Quentin, Khan, Taushif, Marchal, Astrid, Charmeteau-De Muylder, Bénédicte, Bizien, Lucy, Deswarte, Caroline, Hadjem, Lillia, Fauvarque, Marie-Odile, Dorgham, Karim, Eriksson, Daniel, Falcone, Emilia Liana, Puel, Mathilde, Ünal, Sinem, Geraldo, Amyrath, Le Floc’h, Corentin, Li, Hailun, Rheault, Sylvie, Muti, Christine, Bobrie-Moyrand, Claire, Welfringer-Morin, Anne, Fuleihan, Ramsay L., Lévy, Romain, Roelens, Marie, Gao, Liwei, Materna, Marie, Pellegrini, Silvia, Piemonti, Lorenzo, Catherinot, Emilie, Goffard, Jean-Christophe, Fekkar, Arnaud, Sacko-Sow, Aissata, Soudée, Camille, Boucherit, Soraya, Neehus, Anna-Lena, Has, Cristina, Hübner, Stefanie, Blanchard-Rohner, Géraldine, Amador-Borrero, Blanca, Utsumi, Takanori, Taniguchi, Maki, Tani, Hiroo, Izawa, Kazushi, Yasumi, Takahiro, Kanai, Sotaro, Migaud, Mélanie, Aubart, Mélodie, Lambert, Nathalie, Gorochov, Guy, Picard, Capucine, Soudais, Claire, L’Honneur, Anne-Sophie, Rozenberg, Flore, Milner, Joshua D., Zhang, Shen-Ying, Vabres, Pierre, Trpinac, Dusan, Marr, Nico, Boddaert, Nathalie, Desguerre, Isabelle, Pasparakis, Manolis, Miller, Corey N., Poziomczyk, Cláudia S., Abel, Laurent, Okada, Satoshi, Jouanguy, Emmanuelle, Cheynier, Rémi, Zhang, Qian, Cobat, Aurélie, Béziat, Vivien, Boisson, Bertrand, Steffann, Julie, Fusco, Francesca, Ursini, Matilde Valeria, Hadj-Rabia, Smail, Bodemer, Christine, Bustamante, Jacinta, Luche, Hervé, Puel, Anne, Courtois, Gilles, Bastard, Paul, Landegren, Nils, Anderson, Mark S., and Casanova, Jean-Laurent

Abstract

Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pigmenti (IP), heterozygous for loss-of-function (LOF) NEMO variants, from 99 kindreds in 10 countries. Forty-seven of these patients (36%) have auto-Abs neutralizing IFN-α and/or IFN-ω, a proportion 23 times higher than that for age-matched female controls. This proportion remains stable from the age of 6 years onward. On imaging, female patients with IP have a small, abnormally structured thymus. Auto-Abs against type I IFNs confer a predisposition to life-threatening viral diseases. By contrast, patients with IP lacking auto-Abs against type I IFNs are at no particular risk of viral disease. These results suggest that IP accelerates thymic involution, thereby underlying the production of auto-Abs neutralizing type I IFNs in at least a third of female patients with IP, predisposing them to life-threatening viral diseases.

Published
2024
Full Text
View/download PDF

13. Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

Author

David, Clémence, Arango-Franco, Carlos A., Badonyi, Mihaly, Fouchet, Julien, Rice, Gillian I., Didry-Barca, Blaise, Maisonneuve, Lucie, Seabra, Luis, Kechiche, Robin, Masson, Cécile, Cobat, Aurélie, Abel, Laurent, Talouarn, Estelle, Béziat, Vivien, Deswarte, Caroline, Livingstone, Katie, Paul, Carle, Malik, Gulshan, Ross, Alison, Adam, Jane, Walsh, Jo, Kumar, Sathish, Bonnet, Damien, Bodemer, Christine, Bader-Meunier, Brigitte, Marsh, Joseph A., Casanova, Jean-Laurent, Crow, Yanick J., Manoury, Bénédicte, Frémond, Marie-Louise, Bohlen, Jonathan, and Lepelley, Alice

Abstract

UNC93B1 is a transmembrane domain protein mediating the signaling of endosomal Toll-like receptors (TLRs). We report five families harboring rare missense substitutions (I317M, G325C, L330R, R466S, and R525P) in UNC93B1 causing systemic lupus erythematosus (SLE) or chilblain lupus (CBL) as either autosomal dominant or autosomal recessive traits. As for a D34A mutation causing murine lupus, we recorded a gain of TLR7 and, to a lesser extent, TLR8 activity with the I317M (in vitro) and G325C (in vitro and ex vivo) variants in the context of SLE. Contrastingly, in three families segregating CBL, the L330R, R466S, and R525P variants were isomorphic with respect to TLR7 activity in vitro and, for R525P, ex vivo. Rather, these variants demonstrated a gain of TLR8 activity. We observed enhanced interaction of the G325C, L330R, and R466S variants with TLR8, but not the R525P substitution, indicating different disease mechanisms. Overall, these observations suggest that UNC93B1 mutations cause monogenic SLE or CBL due to differentially enhanced TLR7 and TLR8 signaling.

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results