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23 results on '"Fremond, Marie-Louise"'

2. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome

Author

Delafontaine, Selket, Iannuzzo, Alberto, Bigley, Tarin M., Mylemans, Bram, Rana, Ruchit, Baatsen, Pieter, Poli, Maria Cecilia, Rymen, Daisy, Jansen, Katrien, Mekahli, Djalila, Casteels, Ingele, Cassiman, Catherine, Demaerel, Philippe, Lepelley, Alice, Fremond, Marie-Louise, Schrijvers, Rik, Vints, Xavier Bossuy Katlijn, Huybrechts, Wim, Tacine, Rachida, Willekens, Karen, Corveleyn, Anniek, Boeckx, Bram, Baggio, Marco, Ehlers, Lisa, Munck, Sebastian, Lambrechts, Diether, Moens, Arnout VoeLeen, Bucciol, Giorgia, Cooper, Megan A., Davis, Carla M., Delon, Jerome, and Meyts, Isabelle

Subjects
Interferon, Family, Autoimmunity, B cells -- Genetic aspects, Health care industry
Abstract

Mutations in the N-terminal WD40 domain of coatomer protein complex subunit a (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.R1058C, and p.R1142X) in 6 children from 3 unrelated families with a similar syndrome of autoinflammation and autoimmunity. We showed that these CTD COPA mutations disrupt the integrity and the function of coat protein complex I (COPI). In [COPA.sup.R1142X] and [COPA.sup.R1058C] fibroblasts, we demonstrated that COPI dysfunction causes both an anterograde ER-to-Golgi and a retrograde Golgi-to-ER trafficking defect. The disturbed intracellular trafficking resulted in a cGAS/STING-dependent upregulation of the type I IFN signaling in patients and patient-derived cell lines, albeit through a distinct molecular mechanism in comparison with mutations in the WD40 domain of COPA. We showed that CTD COPA mutations induce an activation of ER stress and NF-[kappa]B signaling in patient-derived primary cell lines. These results demonstrate the importance of the integrity of the CTD of COPA for COPI function and homeostatic intracellular trafficking, essential to ER homeostasis. CTD COPA mutations result in disease by increased ER stress, disturbed intracellular transport, and increased proinflammatory signaling., Introduction The COPA gene encodes coatomer protein complex subunit [alpha] (COPA) (1). COPA was described in 1991 as a coat subunit of Golgi derived non-clathrin-coated vesicles, later termed 'coatomer' (2, [...]

Published
2024
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5. Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Author

Frémond, Marie-Louise, Hadchouel, Alice, Berteloot, Laureline, Melki, Isabelle, Bresson, Violaine, Barnabei, Laura, Jeremiah, Nadia, Belot, Alexandre, Bondet, Vincent, Brocq, Olivier, Chan, Damien, Dagher, Rawane, Dubus, Jean-Christophe, Duffy, Darragh, Feuillet-Soummer, Séverine, Fusaro, Mathieu, Gattorno, Marco, Insalaco, Antonella, Jeziorski, Eric, Kitabayashi, Naoki, Lopez-Corbeto, Mireia, Mazingue, Françoise, Morren, Marie-Anne, Rice, Gillian I., Rivière, Jacques G., Seabra, Luis, Sirvente, Jérôme, Soler-Palacin, Pere, Stremler-Le Bel, Nathalie, Thouvenin, Guillaume, Thumerelle, Caroline, Van Aerde, Eline, Volpi, Stefano, Willcocks, Sophie, Wouters, Carine, Breton, Sylvain, Molina, Thierry, Bader-Meunier, Brigitte, Moshous, Despina, Fischer, Alain, Blanche, Stéphane, Rieux-Laucat, Frédéric, Crow, Yanick J., and Neven, Bénédicte

Published
2021
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7. Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children

Author

Neven, Bénédicte, Diana, Jean-Sébastien, Castelle, Martin, Magnani, Alessandra, Rosain, Jérémie, Touzot, Fabien, Moreira, Baptiste, Fremond, Marie-Louise, Briand, Coralie, Bendavid, Matthieu, Levy, Romain, Morelle, Guillaume, Vincent, Marc, Magrin, Elsa, Bourget, Philippe, Chatenoud, Lucienne, Picard, Capucine, Fischer, Alain, Moshous, Despina, and Blanche, Stéphane

Published
2019
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8. 190 What is needed to diagnose an autoinflammatory disease? From clinical manifestations to genomic sequencing: the Brazilian experience

Author

Mendonca, Leonardo, Pontillo, Alessandra, Freschi-Barros, Samar, Melato, Amanda, Cunha, Ana Luiza, Ianhez, Mayra, Osaku, Fabiane, Carvalho, Luciana Martins de, Didier, Filipe, Cavalcanti, Andre, Carlos, Luana Ribeiro, Takano, Olga, Robazzi, Tereza, Alcantara, Carolina, Francescantonio, Isadora, Frèmond, Marie-Louise, and Kalil, Jorge

Published
2024
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10. Type I interferon pathway assays in studies of rheumatic and musculoskeletal diseases : a systematic literature review informing EULAR points to consider

Author

Burska, Agata, Rodriguez-Carrio, Javier, Biesen, Robert, Dik, Willem A., Eloranta, Maija-Leena, Cavalli, Giulio, Visser, Marianne, Boumpas, Dimitrios T., Bertsias, George, Wahren-Herlenius, Marie, Rehwinkel, Jan, Fremond, Marie-Louise, Crow, Mary K., Rönnblom, Lars, Conaghan, P. G., Versnel, Marjan, Vital, Ed, Burska, Agata, Rodriguez-Carrio, Javier, Biesen, Robert, Dik, Willem A., Eloranta, Maija-Leena, Cavalli, Giulio, Visser, Marianne, Boumpas, Dimitrios T., Bertsias, George, Wahren-Herlenius, Marie, Rehwinkel, Jan, Fremond, Marie-Louise, Crow, Mary K., Rönnblom, Lars, Conaghan, P. G., Versnel, Marjan, and Vital, Ed

Abstract

ObjectivesTo systematically review the literature for assay methods that aim to evaluate type I interferon (IFN-I) pathway activation and to harmonise-related terminology.MethodsThree databases were searched for reports of IFN-I and rheumatic musculoskeletal diseases. Information about the performance metrics of assays measuring IFN-I and measures of truth were extracted and summarised. A EULAR task force panel assessed feasibility and developed consensus terminology.ResultsOf 10 037 abstracts, 276 fulfilled eligibility criteria for data extraction. Some reported more than one technique to measure IFN-I pathway activation. Hence, 276 papers generated data on 412 methods. IFN-I pathway activation was measured using: qPCR (n=121), immunoassays (n=101), microarray (n=69), reporter cell assay (n=38), DNA methylation (n=14), flow cytometry (n=14), cytopathic effect assay (n=11), RNA sequencing (n=9), plaque reduction assay (n=8), Nanostring (n=5), bisulphite sequencing (n=3). Principles of each assay are summarised for content validity. Concurrent validity (correlation with other IFN assays) was presented for n=150/412 assays. Reliability data were variable and provided for 13 assays. Gene expression and immunoassays were considered most feasible. Consensus terminology to define different aspects of IFN-I research and practice was produced.ConclusionsDiverse methods have been reported as IFN-I assays and these differ in what elements or aspects of IFN-I pathway activation they measure and how. No 'gold standard' represents the entirety of the IFN pathway, some may not be specific for IFN-I. Data on reliability or comparing assays were limited, and feasibility is a challenge for many assays. Consensus terminology should improve consistency of reporting.

Published
2023
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11. Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases : a systematic literature review informing EULAR points to consider

Author

Rodriguez-Carrio, Javier, Burska, Agata, Conaghan, P. G., Dik, Willem A., Biesen, Robert, Eloranta, Maija-Leena, Cavalli, Giulio, Visser, Marianne, Boumpas, Dimitrios T., Bertsias, George, Wahren-Herlenius, Marie, Rehwinkel, Jan, Fremond, Marie-Louise, Crow, Mary K., Rönnblom, Lars, Vital, Ed, Versnel, Marjan, Rodriguez-Carrio, Javier, Burska, Agata, Conaghan, P. G., Dik, Willem A., Biesen, Robert, Eloranta, Maija-Leena, Cavalli, Giulio, Visser, Marianne, Boumpas, Dimitrios T., Bertsias, George, Wahren-Herlenius, Marie, Rehwinkel, Jan, Fremond, Marie-Louise, Crow, Mary K., Rönnblom, Lars, Vital, Ed, and Versnel, Marjan

Abstract

BackgroundType I interferons (IFN-I) contribute to a broad range of rheumatic and musculoskeletal diseases (RMDs). Compelling evidence suggests that the measurement of IFN-I pathway activation may have clinical value. Although several IFN-I pathway assays have been proposed, the exact clinical applications are unclear. We summarise the evidence on the potential clinical utility of assays measuring IFN-I pathway activation.MethodsA systematic literature review was conducted across three databases to evaluate the use of IFN-I assays in diagnosis and monitor disease activity, prognosis, response to treatment and responsiveness to change in several RMDs.ResultsOf 366 screened, 276 studies were selected that reported the use of assays reflecting IFN-I pathway activation for disease diagnosis (n=188), assessment of disease activity (n=122), prognosis (n=20), response to treatment (n=23) and assay responsiveness (n=59). Immunoassays, quantitative PCR (qPCR) and microarrays were reported most frequently, while systemic lupus erythematosus (SLE), rheumatoid arthritis, myositis, systemic sclerosis and primary Sjogren's syndrome were the most studied RMDs. The literature demonstrated significant heterogeneity in techniques, analytical conditions, risk of bias and application in diseases. Inadequate study designs and technical heterogeneity were the main limitations. IFN-I pathway activation was associated with disease activity and flare occurrence in SLE, but their incremental value was uncertain. IFN-I pathway activation may predict response to IFN-I targeting therapies and may predict response to different treatments.ConclusionsEvidence indicates potential clinical value of assays measuring IFN-I pathway activation in several RMDs, but assay harmonisation and clinical validation are urged. This review informs the EULAR points to consider for the measurement and reporting of IFN-I pathway assays.

Published
2023
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13. Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection

Author

Lanternier, Fanny, Barbati, Elisa, Meinzer, Ulrich, Liu, Luyan, Pedergnana, Vincent, Migaud, Mélanie, Héritier, Sébastien, Chomton, Maryline, Frémond, Marie-Louise, Gonzales, Emmanuel, Galeotti, Caroline, Romana, Serge, Jacquemin, Emmanuel, Angoulvant, Adela, Bidault, Valeska, Canioni, Danielle, Lachenaud, Julie, Mansouri, Davood, Mahdaviani, Seyed Alireza, Adimi, Parvaneh, Mansouri, Nabal, Jamshidi, Mahin, Bougnoux, Marie-Elisabeth, Abel, Laurent, Lortholary, Olivier, Blanche, Stéphane, Casanova, Jean-Laurent, Picard, Capucine, and Puel, Anne

Published
2015

19. Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children

Author

Frémond, Marie-Louise, Rodero, Mathieu Paul, Jeremiah, Nadia, Belot, Alexandre, Jeziorski, Eric, Duffy, Darragh, Bessis, Didier, Cros, Guilhem, Rice, Gillian I., Charbit, Bruno, Hulin, Anne, Khoudour, Nihel, Caballero, Consuelo Modesto, Bodemer, Christine, Fabre, Monique, Berteloot, Laureline, Le Bourgeois, Muriel, Reix, Philippe, Walzer, Thierry, Moshous, Despina, Blanche, Stéphane, Fischer, Alain, Bader-Meunier, Brigitte, Rieux-Laucat, Fréderic, Crow, Yanick Joseph, and Neven, Bénédicte

Published
2016
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20. COPA syndrome restricted to life-threatening alveolar hemorrhages: clinical, pathological, molecular and biological characterization

Author

Nathan, Nadia, primary, Legendre, Marie, additional, Amselem, Serge, additional, Clement, Annick, additional, Filhol-Blin, Emilie, additional, Richard, Nicolas, additional, Roullaud, Sylvie, additional, Fayon, Michael, additional, Rice, Gillian I, additional, Duffy, Darragh, additional, Bondet, Vincent, additional, Coulomb L’Hermine, Aurore, additional, Neven, Benedicte, additional, Fremond, Marie-Louise, additional, and Crow, Yanick J, additional

Published
2018
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22. Reiterated Therapeutic Drug Monitoring (TDM) Dosing to Significantly Improve the Control of Exposure to IV Busulfan in Infants and Older Children Undergoing Hematopoietic Stem-Cell Transplantation (HSCT)

Author

Amin, Alexandre, primary, Bourget, Philippe, additional, Neven, Benedicte, additional, Fremond, Marie-Louise, additional, Castelle, Martin, additional, Elkaim, Elodie, additional, Cros, Guilhem, additional, Moshous, Despina, additional, Touzot, Fabien, additional, Lalli, Alexandre, additional, Petain, Aurélie, additional, Nguyen, Laurent, additional, and Blanche, Stephane, additional

Published
2015
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23. Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

Author

Desplantes, Claire, primary, Fremond, Marie Louise, additional, Beaupain, Blandine, additional, Harousseau, Jean Luc, additional, Buzyn, Agnès, additional, Pellier, Isabelle, additional, Roques, Gaelle, additional, Morville, Pierre, additional, Paillard, Catherine, additional, Bruneau, Julie, additional, Pinson, Lucile, additional, Jeziorski, Eric, additional, Vannier, Jean Pierre, additional, Picard, Capucine, additional, Bellanger, Florence, additional, Romero, Norma, additional, de Pontual, Loïc, additional, Lapillonne, Hélène, additional, Lutz, Patrick, additional, Chantelot, Christine Bellanné, additional, and Donadieu, Jean, additional

Published
2014
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