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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.
Les autres groupes de travail pour mener à bien ce projet.
Restoring immune homeostasis through cell therapy and in vivo cell reprogramming
Comprehensive and predictive models to evaluate drug response and safety
Pour rester informé.e
Formulaire et plan
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