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We have 2 main aims (graphical abstract):
Aim 1: Integrative analysis of B and T cell subsets, BCR/TCR, and autoAb repertoires in AID. We will deeply phenotype B and T cell subsets in both healthy individuals and AID patients, employing cutting-edge single-cell technologies to map their transcriptomic, proteomic, and epigenetic profiles. This data will be integrated into an immunomics model to better understand the diversity of B/T cell responses across different diseases.
Aim 2: Deciphering myeloid cell responses in target organ homeostasis disruption. Focusing on target organs like the synovial joint, we will explore the interactions between myeloid cells and other immune cells, using advanced techniques including scRNAseq and imaging mass cytometry coupled with systems biology and machine learning. Our goal is to identify myeloid cell subsets and interactions that contribute to disease progression, paving the way for new therapeutic targets.
Our overall objective is to understand disease heterogeneity and identify potential candidates for the development of personalized therapies and innovative strategies targeting tissue homeostasis disruption.
Generation of non-genetically modified, CAR-like, NK cells
Loïs Coënon, Emilie Rigal, Hortense Courot, Caroline Multrier, Sara Zemiti, Jennifer Lambour, Martine Pugnière, Marion de Toledo, Guillaume Bossis, Guillaume Cartron, Bruno Robert, Pierre Martineau, Bénédicte Fauvel, Jessy Presumey, Martin Villalba
J Immunother Cancer 2024 Jul 18;12(7):e009070. doi: 10.1136/jitc-2024-009070.
IMGT/mAb-KG: the knowledge graph for therapeutic monoclonal antibodies
Gaoussou Sanou, Taciana Manso, Konstantin Todorov, Véronique Giudicelli, Patrice Duroux, Sofia Kossida
Front Immunol. 2024, Jun 20:15:1393839. doi: 10.3389/fimmu.2024.1393839.
Inferring ligand-receptor cellular networks from bulk and spatial transcriptomic datasets with BulkSignalR
Jean-Philippe Villemin, Laia Bassaganyas, Didier Pourquier, Florence Boissière, Simon Cabello-Aguilar, Evelyne Crapez, Rita Tanos, Emmanuel Cornillot, Andrei Turtoi, Jacques Colinge
Nucleic Acids Res. 2023 May 5;51(10):4726-4744. doi: 10.1093/nar/gkad352.
Modular response analysis reformulated as a multilinear regression problem
Jean-Pierre Borg, Jacques Colinge, Patrice Ravel
Bioinformatics 2023 Apr 3;39(4):btad166. doi: 10.1093/bioinformatics/btad166.
Design and selection of optimal ErbB-targeting bispecific antibodies in pancreatic cancer
Emilia Rabia, Véronique Garambois, Christine Dhommée, Christel Larbouret, Laurie Lajoie, Yoan Buscail, Gabriel Jimenez-Dominguez, Sylvie Choblet-Thery, Emmanuelle Liaudet-Coopman, Martine Cerutti, Marta Jarlier, Patrice Ravel, Laurent Gros, Nelly Pirot, Gilles Thibault, Eugene A Zhukovsky, Pierre-Emmanuel Gérard, André Pèlegrin, Jacques Colinge, Thierry Chardès
Front Immunol. 2023 Apr 20:14:1168444. doi: 10.3389/fimmu.2023.1168444.
g-NK cells from umbilical cord blood are phenotypically and functionally different than g-NK cells from peripheral blood
Fei Gao, Mauricio Campos Mora, Michael Constantinides, Loïs Coenon, Caroline Multrier, Loïc Vaillant, Tianxiang Zhang, Martin Villalba
Oncoimmunology 2023 Nov 22;12(1):2283353. doi: 10.1080/2162402X.2023.2283353.
Spatial mapping of rheumatoid arthritis synovial niches reveals specific macrophage networks associated with response to therapy
Julien De Lima, Marie-Astrid Boutet, Olivier Bortolotti, Laure-Agnès Chépeaux, Yaël Glasson, Anne-Sophie Dumé, Adrien Le Pluart, Alessandra Nerviani, Liliane Fossati-Jimack, Henri-Alexandre Michaud, Jérôme Guicheux, Benoit Le Goff, Costantino Pitzalis, Gabriel Courties, Florence Apparailly, Frederic Blanchard
BioRxiv 2023. Oct. https://doi.org/10.1101/2023.10.20.563040
Mechanisms of action of monoclonal antibodies in oncology integrated in IMGT/mAb-DB.
Taciana Manso, Anjana Kushwaha, Nika Abdollahi, Patrice Duroux, Véronique Giudicelli, Sofia Kossida
Front Immunol. 2023, May 5:14:1129323. doi:10.3389/fimmu.2023.1129323.
IMGT® Immunoinformatics Tools for Standardized V-DOMAIN Analysis
Véronique Giudicelli, Patrice Duroux, Maël Rollin, Safa Aouinti, Géraldine Folch, Joumana Jabado-Michaloud, Marie-Paule Lefranc, Sofia Kossida
Methods Mol Biol. 2022:2453:477-531. doi: 10.1007/978-1-0716-2115-8_24.
IMGT® databases, related tools and web resources through three main axes of research and development
Taciana Manso, Géraldine Folch, Véronique Giudicelli, Joumana Jabado-Michaloud, Anjana Kushwaha, Viviane Nguefack Ngoune, Maria Georga, Ariadni Papadaki, Chahrazed Debbagh, Perrine Pégorier, Morgane Bertignac, Saida Hadi-Saljoqi, Imène Chentli, Karima Cherouali, Safa Aouinti, Amar El Hamwi, Alexandre Albani, Merouane Elazami Elhassani, Benjamin Viart, Agathe Goret, Anna Tran, Gaoussou Sanou, Maël Rollin, Patrice Duroux, Sofia Kossida
Nucleic Acids Res. 2022 Jan 7;50(D1):D1262-D1272. doi: 10.1093/nar/gkab1136.
Percolation transitions in compressed SiO2 glasses
A Hasmy, S Ispas, Bernard Hehlen
Nature 2021 Nov;599(7883):62-66. doi: 10.1038/s41586-021-03918-0.
Mitochondrial microRNAs contribute to macrophage immune functions including differentiation, polarization and activation
Isabelle Duroux-Richard, Florence Apparailly, Maroun Khoury
Front Physiol. 2021 Nov 3:12:738140. doi: 10.3389/fphys.2021.738140.
Regulatory T cell differentiation is controlled by αKG-induced alterations in mitochondrial metabolism and lipid homeostasis
Maria I Matias, Carmen S Yong, Amir Foroushani, Chloe Goldsmith, Cédric Mongellaz, Erdinc Sezgin, Kandice R Levental, Ali Talebi, Julie Perrault, Anais Rivière, Jonas Dehairs, Océane Delos, Justine Bertand-Michel, Jean-Charles Portais, Madeline Wong, Julien C Marie, Ameeta Kelekar, Sandrina Kinet, Valérie S Zimmermann, Ilya Levental, Laurent Yvan-Charvet, Johannes V Swinnen, Stefan A Muljo, Hector Hernandez-Vargas, Saverio Tardito, Naomi Taylor, Valérie Dardalhon
Cell Rep. 2021 Nov 2;37(5):109911. doi: 10.1016/j.celrep.2021.109911.
‘SMASH’ recommendations for standardised microscopic arthritis scoring of histological sections from inflammatory arthritis animal models
Silvia Hayer, Margriet J Vervoordeldonk, Maria C Denis, Marietta Armaka, Markus Hoffmann, Johan Bäcklund, Kutty Selva Nandakumar, Birgit Niederreiter, Christina Geka, Anita Fischer, Nina Woodworth, Stephan Blüml, George Kollias, Rikard Holmdahl, Florence Apparailly, Marije I Koenders
Ann Rheum Dis. 2021 Jun;80(6):714-726. doi: 10.1136/annrheumdis-2020-219247.
Synovial macrophages: from ordinary eaters to extraordinary multitaskers
Nicole Hannemann, Florence Apparailly, Gabriel Courties
Trends Immunol. 2021 May;42(5):368-371. doi: 10.1016/j.it.2021.03.002.
Novel insights into macrophage diversity in rheumatoid arthritis synovium
Marie-Astrid Boutet, Gabriel Courties, Alessandra Nerviani, Benoit Le Goff, Florence Apparailly, Costantino Pitzalis, Frédéric Blanchard
Autoimmun Rev. 2021 Mar;20(3):102758. doi: 10.1016/j.autrev.2021.102758.
SingleCellSignalR: inference of intercellular networks from single-cell transcriptomics
Simon Cabello-Aguilar, Mélissa Alame, Fabien Kon-Sun-Tack, Caroline Fau, Matthieu Lacroix, Jacques Colinge
Nucleic Acids Res. 2020 Jun 4;48(10):e55. doi: 10.1093/nar/gkaa183.
The molecular and stromal landscape of salivary duct carcinoma reveals new therapeutic opportunities.
Melissa Alame, Emmanuel Cornillot, Valère Cacheux, Guillaume Tosato, Marion Four, Laura De Oliveira, Stéphanie Gofflot, Philippe Delvenne, Evgenia Turtoi, Simon Cabello-Aguilar, Masahiko Nishiyama, Andrei Turtoi, Valérie Costes-Martineau, Jacques Colinge
Theranostics 2020 Mar 15;10(10):4383–4394. doi: 10.7150/thno.42986.
Single-cell mapping of the thymic stroma identifies IL-25-producing tuft epithelial cells
Chamutal Bornstein, Shir Nevo, Amir Giladi, Noam Kadouri, Marie Pouzolles, François Gerbe, Eyal David, Alice Machado, Anna Chuprin, Beáta Tóth, Ori Goldberg, Shalev Itzkovitz, Naomi Taylor, Philippe Jay, Valérie S Zimmermann, Jakub Abramson, Ido Amit
Nature 2018 Jul;559(7715):622-626. doi: 10.1038/s41586-018-0346-1.
Workpackage 2 (WP2) is built on the complementary expertise of 65 clinicians, researchers, engineers and technicians to propose innovative solutions to restore immune homeostasis in patients suffering from autoimmune diseases (AID). Our consortium is developing cutting-edge biotherapies to selectively target the myeloid cells, T and B lymphocytes involved in AID.
Lactate: an alternative pathway for the immunosuppressive properties of mesenchymal stem/stromal cells
Carolina Pradenas, Noymar Luque-Campos, Karina Oyarce, Rafael Contreras-Lopez, Felipe A Bustamante-Barrientos, Andrés Bustos, Felipe Galvez-Jiron , María Jesús Araya, Catalina Asencio, Raúl Lagos, Yeimi Herrera-Luna, Daouda Abba Moussa, Charlotte Nicole Hill , Eliana Lara-Barba, Claudia Altamirano, Alexander Ortloff, Yessia Hidalgo-Fadic, Ana María Vega-Letter, María de Los Ángeles García-Robles , Farida Djouad, Patricia Luz-Crawford, Roberto Elizondo-Vega
Stem Cell Res Ther. 2023 Nov 19;14(1):335. doi: 10.1186/s13287-023-03549-4.
g-NK cells from umbilical cord blood are phenotypically and functionally different than g-NK cells from peripheral blood
Fei Gao 1 2, Mauricio Campos Mora 2, Michael Constantinides 2, Loïs Coenon 2, Caroline Multrier 2, Loïc Vaillant 2, Tianxiang Zhang 3, Martin Villalba
Oncoimmunology 2023 Nov 22;12(1):2283353. doi: 10.1080/2162402X.2023.2283353.
Cytokines impact natural killer cell phenotype and functionality against glioblastoma in vitro
Minna Sivonen, Katja A Sirviö, Sara Wojciechowski, Anssi Kailaanmäki, Satu Kaipainen, Aubrey Bailey, Martin Villalba, Tuija Kekarainen
Front Immunol. 2023 Sep 28:14:1227064. doi: 10.3389/fimmu.2023.1227064.
Dynamic Changes in miRNA Expression during the Generation of Expanded and Activated NK Cells
Chantal Reina-Ortiz, Ma Pilar Mozas, David Ovelleiro, Fei Gao, Martín Villalba
Int J Mol Sci. 2023 Aug 31;24(17):13556. doi: 10.3390/ijms241713556.
Transfer of mesenchymal stem cell mitochondria to CD4+ T cells contributes to repress Th1 differentiation by downregulating T-bet expression
Waseem Akhter , Jean Nakhle, Loïc Vaillant, Geneviève Garcin, Cécile Le Saout, Matthieu Simon, Carole Crozet, Farida Djouad, Christian Jorgensen, Marie-Luce Vignais, Javier Hernandez
Stem Cell Res Ther. 2023 Jan 24;14(1):12. doi: 10.1186/s13287-022-03219-x.
PPAR β/ δ-Interfering Peptide Enhanced Mesenchymal Stromal Cell Immunoregulatory Properties
Gautier Tejedor, Prisca Boisguerin, Éric Vivès, Christian Jorgensen, Jérôme Guicheux, Claire Vinatier, Claire Gondeau, Farida Djouad
Stem Cells Int. 2022 Dec 13:2022:5494749. doi: 10.1155/2022/5494749
Size-tunable lipid vectors for controlled local delivery of siRNA from gene activated matrix
Jeremy Salvador, Jade Berthelot, Claire Bony, Baptiste Robin, Josephine Lai Kee Him, Danièle Noël, Emmanuel Belamie, Marie Morille
Acta Biomater. 2022 Nov:153:97-107. doi: 10.1016/j.actbio.2022.09.016.
From CD16a Biology to Antibody-Dependent Cell-Mediated Cytotoxicity Improvement
Loïs Coënon, Martin Villalba
Front Immunol. 2022 Jun 3:13:913215. doi: 10.3389/fimmu.2022.913215.
Intra-articular delivery of full-length antibodies through the use of an in situ forming depot
Alexis Fayd’herbe De Maudave, Wilhem Leconet, Karine Toupet, Michael Constantinides, Guillaume Bossis, Marion de Toledo, Jérôme Vialaret, Christophe Hirtz, Adolfo Lopez-Noriega, Christian Jorgensen, Daniele Noël, Pascale Louis-Plence, Sylvestre Grizot, Martin Villalba
J Control Release 2022 Jan:341:578-590. doi: 10.1016/j.jconrel.2021.12.010.
Human MuStem cells repress T-cell proliferation and cytotoxicity through both paracrine and contact-dependent pathways
Marine Charrier, Judith Lorant, Rafael Contreras-Lopez, Gautier Téjédor, Christophe Blanquart, Blandine Lieubeau, Cindy Schleder, Isabelle Leroux, Sophie Deshayes, Jean-François Fonteneau, Candice Babarit, Antoine Hamel, Armelle Magot, Yann Péréon, Sabrina Viau, Bruno Delorme, Patricia Luz-Crawford, Guillaume Lamirault, Farida Djouad, Karl Rouger
Stem Cell Res Ther. 2022 Jan 10;13(1):7. doi: 10.1186/s13287-021-02681-3.
Metformin sensitizes leukemic cells to cytotoxic lymphocytes by increasing expression of intercellular adhesion molecule-1 (ICAM-1)
Nerea Allende-Vega, Joaquin Marco Brualla, Paolo Falvo, Catherine Alexia, Michael Constantinides, Alexis Fayd’herbe de Maudave, Lois Coenon, Delphine Gitenay, Giulia Mitola, Paul Massa, Stefania Orecchioni, Francesco Bertolini, Isabel Marzo, Alberto Anel, Martin Villalba
Sci Rep. 2022 Jan 25;12(1):1341. doi: 10.1038/s41598-022-05470-x.
Delivery of miR-146a to Ly6Chigh Monocytes Inhibits Pathogenic Bone Erosion in Inflammatory Arthritis
Meryem Ammari, Jessy Presumey, Clara Ponsolles, Gautier Roussignol, Christine Roubert, Virginie Escriou, Karine Toupet, Anne-Laure Mausset-Bonnefont, Maïlys Cren, Maxime Robin, Philippe Georgel, Ramzi Nehmar, Leonie Taams, Joachim Grün, Andrea Grützkau, Thomas Häupl, Yves-Marie Pers, Christian Jorgensen, Isabelle Duroux-Richard, Gabriel Courties, Florence Apparailly
Theranostics 2018 Nov 13;8(21):5972-5985. doi: 10.7150/thno.29313.
miR-125b controls monocyte adaptation to inflammation through mitochondrial metabolism and dynamics
Isabelle Duroux-Richard, Christine Roubert, Meryem Ammari, Jessy Présumey, Joachim R Grün, Thomas Häupl, Andreas Grützkau, Charles-Henri Lecellier, Valérie Boitez, Patrice Codogno, Johanna Escoubet, Yves-Marie Pers, Christian Jorgensen, Florence Apparailly
Blood 2016 Dec 29;128(26):3125-3136. doi: 10.1182/blood-2016-02-697003.
Nicotinamide phosphoribosyltransferase/visfatin expression by inflammatory monocytes mediates arthritis pathogenesis
Jessy Présumey, Gabriel Courties, Pascale Louis-Plence, Virginie Escriou, Daniel Scherman, Yves-Marie Pers, Hans Yssel, Jérôme Pène, Diego Kyburz, Steffen Gay, Christian Jorgensen, Florence Apparailly
Ann Rheum Dis. 2013 Oct;72(10):1717-24. doi: 10.1136/annrheumdis-2012-202403.
In vivo RNAi-mediated silencing of TAK1 decreases inflammatory Th1 and Th17 cells through targeting of myeloid cells
Gabriel Courties, Virginia Seiffart, Jessy Presumey, Virginie Escriou, Daniel Scherman, Jochen Zwerina, Gisela Ruiz, Natalia Zietara, Jadwiga Jablonska, Siegfried Weiss, Andrea Hoffmann, Christian Jorgensen, Florence Apparailly, Gerhard Gross
Blood 2010 Nov 4;116(18):3505-16. doi: 10.1182/blood-2010-02-269605.
Workpackage 3 (WP3) aims to evaluate the efficacy and safety of therapies based on extracellular vesicles, RNA vectors and CAR-engineered cells in different models (organoids, mathematical models, induced or humanized in vivo models). Longitudinal monitoring of the transcriptomic, metabolic and chromatin organization of CAR-engineered cells will allow the identification of modulated target genes and pathways to predict the immune response.
Cartilage regeneration in zebrafish depends on Nrg1/ErbB signaling pathway
Dora Sapède, Sarah Bahraoui, Léa Abou Nassif, Audrey Barthelaix, Marc Mathieu, Christian Jorgensen, Farida Djouad
Front Cell Dev Biol. 2023 Apr 4:11:1123299. doi: 10.3389/fcell.2023.1123299.
Lactate metabolism coordinates macrophage response and regeneration in zebrafish
Candice Bohaud, Jholy De La Cruz, Claudia Terraza, Audrey Barthelaix, Béryl Laplace-Builhé, Christian Jorgensen, Yoan Arribat, Farida Djouad
Theranostics 2022 May 13;12(8):3995-4009. doi: 10.7150/thno.65235.
Exploring Macrophage-Dependent Wound Regeneration During Mycobacterial Infection in Zebrafish
Candice Bohaud, Matt D Johansen, Béla Varga, Rafael Contreras-Lopez, Audrey Barthelaix, Claire Hamela, Dora Sapède, Thierry Cloitre, Csilla Gergely, Christian Jorgensen, Laurent Kremer, Farida Djouad
Front Immunol. 2022 Mar 24:13:838425. doi: 10.3389/fimmu.2022.838425.
Intra-articular delivery of full-length antibodies through the use of an in situ forming depot
Alexis Fayd’herbe De Maudave, Wilhem Leconet, Karine Toupet, Michael Constantinides, Guillaume Bossis, Marion de Toledo, Jérôme Vialaret, Christophe Hirtz, Adolfo Lopez-Noriega, Christian Jorgensen, Daniele Noël, Pascale Louis-Plence, Sylvestre Grizot, Martin Villalba
J Control Release 2022 Jan:341:578-590. doi: 10.1016/j.jconrel.2021.12.010.
Macrophage morphological plasticity and migration is Rac signalling and MMP9 dependant
Jana Travnickova, Sandra Nhim, Naoill Abdellaoui, Farida Djouad, Maï Nguyen-Chi, Andrea Parmeggiani, Karima Kissa
Sci Rep. 2021 May 12;11(1):10123. doi: 10.1038/s41598-021-88961-7.
NRG1/ErbB signalling controls the dialogue between macrophages and neural crest-derived cells during zebrafish fin regeneration
Béryl Laplace-Builhé, Audrey Barthelaix, Said Assou, Candice Bohaud, Marine Pratlong, Dany Severac, Gautier Tejedor, Patricia Luz-Crawford, Mai Nguyen-Chi, Marc Mathieu, Christian Jorgensen, Farida Djouad
Nat Commun. 2021 Nov 3;12(1):6336. doi: 10.1038/s41467-021-26422-5.
Regulatory T cell differentiation is controlled by αKG-induced alterations in mitochondrial metabolism and lipid homeostasis
Maria I Matias, Carmen S Yong, Amir Foroushani, Chloe Goldsmith, Cédric Mongellaz, Erdinc Sezgin, Kandice R Levental, Ali Talebi, Julie Perrault, Anais Rivière, Jonas Dehairs, Océane Delos, Justine Bertand-Michel, Jean-Charles Portais, Madeline Wong, Julien C Marie, Ameeta Kelekar, Sandrina Kinet, Valérie S Zimmermann, Ilya Levental, Laurent Yvan-Charvet, Johannes V Swinnen, Stefan A Muljo 3, Hector Hernandez-Vargas, Saverio Tardito, Naomi Taylor, Valérie Dardalhon
Cell Rep. 2021 Nov 2;37(5):109911. doi: 10.1016/j.celrep.2021.109911.
Mesenchymal stromal cells-derived extracellular vesicles alleviate systemic sclerosis via miR-29a-3p
Pauline Rozier, Marie Maumus, Alexandre Thibault, Jacques Maria, Karine Toupet, Joséphine Lai-Kee-Him, Christian Jorgensen, Philippe Guilpain, Danièle Noël
J Autoimmun. 2021 Jul:121:102660. doi: 10.1016/j.jaut.2021.102660.
Single-cell mapping of the thymic stroma identifies IL-25-producing tuft epithelial cells
Chamutal Bornstein, Shir Nevo, Amir Giladi, Noam Kadouri, Marie Pouzolles, François Gerbe, Eyal David, Alice Machado, Anna Chuprin, Beáta Tóth, Ori Goldberg, Shalev Itzkovitz, Naomi Taylor, Philippe Jay, Valérie S Zimmermann, Jakub Abramson, Ido Amit
Nature. 2018 Jul;559(7715):622-626. doi: 10.1038/s41586-018-0346-1.
Mesenchymal stem cells-derived exosomes are more immunosuppressive than microparticles in inflammatory arthritis
Stella Cosenza, Karine Toupet, Marie Maumus, Patricia Luz-Crawford, Olivier Blanc-Brude, Christian Jorgensen, Danièle Noël
Theranostics 2018 Feb 3;8(5):1399-1410. doi: 10.7150/thno.21072.
Cell surface Glut1 levels distinguish human CD4 and CD8 T lymphocyte subsets with distinct effector functions
Gaspard Cretenet, Isabelle Clerc, Maria Matias, Séverine Loisel, Marco Craveiro, Leal Oburoglu, Sandrina Kinet, Cédric Mongellaz, Valérie Dardalhon, Naomi Taylor
Sci Rep. 2016 Apr 12:6:24129. doi: 10.1038/srep24129.
Workpackage 5 (WP5) is focused on addressing three complex diseases (SLE, RA, and Sclerodermia) through cutting-edge and multidisciplinary technologies, integrating insights from genetics, deep immunophenotyping, transcriptomic and epitranscriptomic analyses, large scale quantitative proteomics, and patient exposure to better stratify the patients.
Multiparametric flow cytometry on PBMCs.
B and T cell purifications for:
• RNAseq Total library
• sc RNA seq VDJ library
Analysis:
• Supervized
• Unsupervized
Single-cell profiling of the patient T and B cells.
Oligoclonality of the TCR and BCR repertoire.
Ag-specific B cell sorting for Immune profiling.
Identification of module of co-regulated genes.
Circulating Biomarkers : Large‐scale quantitative clinical proteomics of patient’s serum.
Multiplexed quantification of chemokines and cytokines.
Autoantigen characterization : Characterization of autoantigens bound to AID-derived serum (LES and Sclerodermia).
Epitranscriptomics : Multiplexed RNA-Modifications quantification.
Multi-omics genomic medicine sequencing :
Long Reads DNA
• SNV and SV analysis
• Methlylation profile
• Long Reads transcriptomics
• Differential expression analysis
• Transcript analysis
Integrated OMICS anaylsis for molecular diagnostic stratification and therapeutic prediction.
Laboratoire de Génétique des Maladies Rares et Autoinflammatoires
Patients’s exposure to:
• Air pollution (remote sensor)
• Water pollution
• Soil contaminants
• Biocontaminants (molds, pollen)
• Infections
• Green, gray, blue spaces
• Diet
• Meteorological variables
• Lifestyle (tobacco, alcohol)
• Occupation
• Socio-economic status
• Etc…
Laboratoire de Génétique des Maladies Rares et Autoinflammatoires
Identification of Biomarkers.
Clustering / Stratification of patients in each AID (RA, SLE, Sclerodermia).
Comparative signature, Identification of sub-population for treatment strategy, Define deregulated pathways and new therapeutic target , in-depth analysis of risk factors, prognostic markers and efficacy of therapeutic interventions, Development of new therapeutic strategies.
Allogenic bone marrow-derived mesenchymal stromal cell-based therapy for patients with chronic low back pain: a prospective, multicentre, randomised placebo-controlled trial (RESPINE study)
Yves-Marie Pers, Robert Soler-Rich, Gianluca Vadalà, Rosanna Ferreira, Claire Duflos, Marie-Christine Picot, Fanchon Herman, Sylvie Broussous, Ana Sánchez, David Noriega, Francisco Ardura, Mercedes Alberca Zaballos, Verónica García, Virginia Gordillo Cano, Margarita González-Vallinas, Vicenzo Denaro, Fabrizio Russo, Jérôme Guicheux, Joan Vilanova, Lluís Orozco, Hans-Jörg Meisel, Matias Alfonso, Francois Rannou, Yves Maugars, Francis Berenbaum, Frank P Barry, Karin Tarte, Pascale Louis-Plence, Guilherme Ferreira-Dos-Santos, Javier García-Sancho, Christian Jorgensen, RESPINE consortium
Ann Rheum Dis. 2024 Oct 21;83(11):1572-1583. doi: 10.1136/ard-2024-225771.
Differential Accumulation and Activation of Monocyte and Dendritic Cell Subsets in Inflamed Synovial Fluid Discriminates Between Juvenile Idiopathic Arthritis and Septic Arthritis
Maïlys Cren, Nadège Nziza, Aurélia Carbasse, Perrine Mahe, Emilie Dufourcq-Lopez, Marion Delpont, Hugues Chevassus, Mirna Khalil, Thibault Mura, Isabelle Duroux-Richard, Florence Apparailly, Eric Jeziorski, Pascale Louis-Plence
Front Immunol. 2020 Jul 31:11:1716. doi: 10.3389/fimmu.2020.01716.
Injection of Adipose-Derived Stromal Cells in the Knee of Patients with Severe Osteoarthritis has a Systemic Effect and Promotes an Anti-Inflammatory Phenotype of Circulating Immune Cells
Yves-Marie Pers, Julie Quentin, Rosanna Feirreira, Francisco Espinoza, Naoill Abdellaoui, Nejla Erkilic, Maïlys Cren, Emilie Dufourcq-Lopez, Oliver Pullig, Ulrich Nöth, Christian Jorgensen, Pascale Louis-Plence
Theranostics 2018 Nov 5;8(20):5519-5528. doi: 10.7150/thno.27674.
Abnormal Immune Profile in Individuals with Kabuki Syndrome.
Comel M, Saad N, Sil D, Apparailly F, Willems M, Djouad F, Andrau JC, Lozano C, Genevieve D.J Clin Immunol. 2024 Sep 12;45(1):7. doi: 10.1007/s10875-024-01796-5.
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
Bianchi C, Margot H, Fernandes H, Pasquet M, Priqueler L, Roy-Peaud F, Bauduer F, Bayart S, Garnier N, Fain O, Van Gils J, Joly SB, Rialland F, Paillard C, Deparis M, Lambilliotte A, Leblanc T, Fahd M, Leverger G, Héritier S, Geneviève D, Rieux-Laucat F, Picard C, Neyraud C, Aladjidi N.
Br J Haematol. 2024 May;204(5):1899-1907. doi: 10.1111/bjh.19387.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D.
Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007.
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity – PubMed (nih.gov)
Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M.
J Allergy Clin Immunol. 2023
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Maassen W, Legger G, Kul Cinar O, van Daele P, Gattorno M, Bader-Meunier B, Wouters C, Briggs T, Johansson L, van der Velde J, Swertz M, Omoyinmi E, Hoppenreijs E, Belot A, Eleftheriou D, Caorsi R, Aeschlimann F, Boursier G, Brogan P, Haimel M, van Gijn M.
Front Immunol. 2023 Sep 12;14:1215869. doi: 10.3389/fimmu.2023.1215869.
Germline Mosaicism in STAT3: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome.
Sabbagh Q, Cohen JD, Mortreux J, Raymond L, Geromel V, Boursier G, Jeziorski E, Le Moing V, Bessis D, Geneviève D.
Dermatitis 2023 Nov-Dec;34(6):561-563. doi: 10.1089/derm.2022.0057.
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Ruault V, Yauy K, Fabre A, Fradin M, Van-Gils J, Angelini C, Baujat G, Blanchet P, Cuinat S, Isidor B, Jorgensen C, Lacombe D, Moutton S, Odent S, Sanchez E, Sigaudy S, Touitou I, Willems M, Apparailly F, Geneviève D, Barat-Houari M.
Arthritis Rheumatol. 2020 Oct;72(10):1689-1693. doi: 10.1002/art.41387.
PSMB10, the last immunoproteasome gene missing for PRAAS.
Sarrabay G, Méchin D, Salhi A, Boursier G, Rittore C, Crow Y, Rice G, Tran TA, Cezar R, Duffy D, Bondet V, Boudhane L, Broca C, Kant BP, VanGijn M, Grandemange S, Richard E, Apparailly F, Touitou I.
J Allergy Clin Immunol. 2020 Mar;145(3):1015-1017.e6. doi: 10.1016/j.jaci.2019.11.024.
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D.
Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021.
Autoimmunecytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
Bianchi C, Margot H, Fernandes H, Pasquet M, Priqueler L, Roy-Peaud F, Bauduer F, Bayart S, Garnier N, Fain O, Van Gils J, Joly SB, Rialland F, Paillard C, Deparis M, Lambilliotte A, Leblanc T, Fahd M, Leverger G, Héritier S, Geneviève D, Rieux-Laucat F, Picard C, Neyraud C, Aladjidi N.
Br J Haematol. 2024 May;204(5):1899-1907. doi: 10.1111/bjh.19387.
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D.
Genet Med. 2024 Jan;26(1):101007. doi: 10.1016/j.gim.2023.101007.
Germline Mosaicism in STAT3: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome.
Sabbagh Q, Cohen JD, Mortreux J, Raymond L, Geromel V, Boursier G, Jeziorski E, Le Moing V, Bessis D, Geneviève D.
Dermatitis 2023 Nov-Dec;34(6):561-563. doi: 10.1089/derm.2022.0057
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Ruault V, Yauy K, Fabre A, Fradin M, Van-Gils J, Angelini C, Baujat G, Blanchet P, Cuinat S, Isidor B, Jorgensen C, Lacombe D, Moutton S, Odent S, Sanchez E, Sigaudy S, Touitou I, Willems M, Apparailly F, Geneviève D, Barat-Houari M.
Arthritis Rheumatol. 2020 Oct;72(10):1689-1693. doi:10.1002/art.41387.
Bioproduction of cell or cell-derived ATMPs for clinical applications is a critical part of innovative clinical trials to treat auto-immune diseases. It relies on two cardinal features:
1) a specific cell product, genetically engineered, or modified with antibodies, mRNA or complex culture conditions, meeting specifications that can address unmet clinical applications,
2) a GMP-compliant production that ensures that the end product meets preset specifications, including a robust potency test, and that is produced in sterile, traceable and reproducible fashion. We will complement our bioproduction capacity with private and academic partnerships, including partners of the IHU.
Generation of non-genetically modified, CAR-like, NK cells
Loïs Coënon, Emilie Rigal, Hortense Courot, Caroline Multrier, Sara Zemiti, Jennifer Lambour, Martine Pugnière, Marion de Toledo, Guillaume Bossis, Guillaume Cartron, Bruno Robert, Pierre Martineau, Bénédicte Fauvel, Jessy Presumey, Martin Villalba
J Immunother Cancer 2024 Jul 18;12(7):e009070. doi: 10.1136/jitc-2024-009070.
A management model in blood, tissue and cell establishments to ensure rapid and sustainable patient access to advanced therapy medicinal products in Europe
Joaquín Delgadillo, Erja Kerkelä, Allison Waters, Emilie van den Akker, Chantal Lechanteur, Etienne Baudoux, Nicola Gardiner, John De Vos, Joaquim Vives
Cytotherapy 2023 Dec;25(12):1259-1264. doi: 10.1016/j.jcyt.2023.08.001.
Differentiation of Human Induced Pluripotent Stem Cells from Patients with Severe COPD into Functional Airway Epithelium
Engi Ahmed, Mathieu Fieldes, Chloé Bourguignon, Joffrey Mianné, Aurélie Petit, Myriam Jory, Chantal Cazevieille, Hassan Boukhaddaoui, James P Garnett, Christophe Hirtz, Gladys Massiera, Isabelle Vachier, Said Assou, Arnaud Bourdin, John De Vos
Cells 2022 Aug 5;11(15):2422. doi: 10.3390/cells11152422.
CRISPR/Cas9-mediated gene knockout and interallelic gene conversion in human induced pluripotent stem cells using non-integrative bacteriophage-chimeric retrovirus-like particle
Joffrey Mianné, Amel Nasri, Chloé Nguyen Van, Chloé Bourguignon, Mathieu Fieldès, Engi Ahmed, Christine Duthoit, Nicolas Martin, Hugues Parrinello, Anaïs Louis, Alexandra Iché, Régis Gayon, Florine Samain, Lucille Lamouroux, Pascale Bouillé, Arnaud Bourdin, Said Assou, John De Vos
BMC Biol. 2022 Jan 7;20(1):8. doi: 10.1186/s12915-021-01214-x.
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