41 results on '"Dieudonné Y"'
Search Results
2. OP0135 MULTI-OMIC STUDY IN PATIENTS WITH SITRAME SYNDROME
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Zhu, Y. Y. J., primary, Soria, A., additional, Amsler, E., additional, Barbaud, A., additional, Rahal, F., additional, Chantran, Y., additional, Moreau, T., additional, Cescato, M., additional, Maillet, F., additional, Korganow, A. S., additional, Dieudonné, Y., additional, Boursier, G., additional, Miyara, M., additional, Cretet, C., additional, Haddouche, A., additional, Beziat, V., additional, Deswarte, C., additional, Duffy, D., additional, Georgin-Lavialle, S., additional, and Rodero, M. P., additional
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- 2024
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3. Atteintes neurologiques au cours du syndrome VEXAS : série rétrospective multicentrique nationale de 30 patients
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Bert-Marcaz, C., primary, Fortanier, E., additional, Briantais, A., additional, Faucher, B., additional, Bourguiba, R., additional, Swiader, L., additional, Schleinitz, N., additional, Jean, R., additional, Bigot, A., additional, Marianetti-Guingel, P., additional, Kostine, M., additional, Outh, R., additional, Dieudonné, Y., additional, Lazaro, E., additional, Vial, G., additional, Palat, S., additional, Frachet, S., additional, De Almeida Chaves, S., additional, Vinzio, S., additional, Robert, M., additional, comont, T., additional, Dion, J., additional, Lacombe, V., additional, Langlois, V., additional, Jachiet, V., additional, Decker, P., additional, Grosleron, S., additional, Broner, J., additional, Guilpain, P., additional, Samson, M., additional, Terrier, B., additional, Georgin-Lavialle, S., additional, Mekinian, A., additional, Delmont, E., additional, and Ebbo, M., additional
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- 2023
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4. Étude multi-omique de patients atteints du syndrome SITRAME
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Zhu, Y.Y.J., primary, Soria, A., additional, Farah, R., additional, Chantran, Y., additional, Moreau, T.R., additional, Cescato, M., additional, Maillet, F., additional, Herbeuval, J.P., additional, Korganow, A.S., additional, Dieudonné, Y., additional, Boursier, G., additional, Duffy, D., additional, Georgin-Lavialle, S., additional, and Rodero, M., additional
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- 2023
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5. Quantum limits of position-sensitive photodiodes
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Fradgley, E., primary, French, C., additional, Rushton, L., additional, Dieudonné, Y., additional, Harrison, L., additional, Beckey, J. L., additional, Miao, H., additional, Gill, C., additional, Petrov, P. G., additional, and Boyer, V., additional
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- 2022
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6. Sclérodermie systémique familiale
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Mallick, J., Guffroy, A., Poindron, V., Martin, T., Dieudonné, Y., Korganow, A.S., and Herber, M.
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- 2024
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7. Implémentation d'un Parcours « Lupus systémique » intégratif en Alsace.
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Scherlinger, M., Dieudonné, Y., Blaison, G., Dervieux, B., Ardizzone, M., Dahan, E., Morruzzi, C., Meyer, L., Barrand, L., Messer, L., Windstein, C., Walther, J., Dory, A., Riviere, M., Gonzalez, M., Carrier, C., Kleinlogel, S., Barthelemy, M., Chatelus, E., and Hinschberger, O.
- Abstract
Le lupus systémique (LS) est une maladie auto-immune rare dont la prise en charge diagnostique et thérapeutique implique de nombreux défis. Le délai diagnostique médian est de deux ans et l'absence de parcours de soin bien défini entraîne un retard diagnostique péjoratif et un vécu négatif par les patients. L'objectif de ce travail était d'évaluer de manière systématique les difficultés et freins rencontrés par les patients diagnostiqués d'un LS en Alsace afin d'y répondre par la création d'un parcours LS Alsace. Un groupe de travail pluriprofessionnel comprenant des médecins (rhumatologues, internistes, dermatologues, biologistes, médecins du travail) hospitaliers et libéraux, des pharmaciens, des paramédicaux (infirmiers), ainsi que des patients et représentants d'association de patients ont participé à ce travail. Chaque étape du parcours patient a été étudiée afin d'évaluer les freins et les leviers d'amélioration potentiels. Des solutions ont été discutées au sein du groupe et implémentées en vie réelle afin d'améliorer le parcours des patients. Trois axes principaux ont été identifiés par le groupe de travail : 1/ les délais et difficultés diagnostiques : une sensibilisation des médecins libéraux au LS a été réalisée par le biais de réunions de formations médicales continues et par la diffusion d'une fiche de symptômes/plaintes devant faire évoquer un LS (Fig. 1). Afin d'améliorer l'identification précoce des patients, une fiche d'aide à la prescription du bilan immunologique regroupant symptomatologie et explorations adaptées a été diffusée (Fig. 2). Le rendu des résultats immunologiques a été harmonisé à l'échelle de l'Alsace avec des commentaires permettant au prescripteur d'orienter au mieux le patient. Une ligne de télé-expertise OMNIDOC a été mise en place afin d'accompagner les libéraux dans l'orientation et l'aide à la prise en charge des patients. Enfin, une fois le diagnostic posé, une proposition de verbatim a été élaborée avec médecins et patients afin que l'annonce diagnostique soit la mieux vécue possible ; 2/ la prise en charge thérapeutique : un document formalisant un projet personnalisé de soin (PPS) a été élaboré pour permettre au patient d'avoir une vision globale de sa prise en charge (Fig. 3). En outre, une réunion de concertation pluridisciplinaire présentielle ou à distance a été renforcée afin de discuter des dossiers complexes (i.e., LS réfractaire, grossesse) ; 3/ prise en charge globale : une hospitalisation de jour modulaire est maintenant mise en place, proposant de manière personnalisée des entretiens médicaux, pharmaceutiques, kinésithérapiques, diététiques, d'activité physique adaptée, d'ergothérapie ou de médecine du travail. La prise en charge des comorbidités (ostéoporose, cardiovasculaire) et de la vaccination est également proposée. Enfin, le programme LS développé par l'équipe d'éducation thérapeutique (ETP) vient renforcer l'offre de prise en charge. L'impact de chaque élément du parcours lupus sera évalué par le biais de mesures quantitative et qualitative. Ce parcours intégratif vise à améliorer et à faciliter le diagnostic précoce et la prise en charge globale des patients atteints de LS en Alsace. Ce type de parcours pourrait être étendu à d'autres régions et d'autres pathologies afin de renforcer les parcours de soin. [ABSTRACT FROM AUTHOR]
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- 2024
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8. Case Report: Acquired Disseminated BCG in the Context of a Delayed Immune Reconstitution After Hematological Malignancy: Acquired Disseminated BCG in the Context of a Delayed Immune Reconstitution After Hematological Malignancy
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Gies, V. (Vincent), Dieudonné, Y. (Yannick), Morel, F. (Florence), Sougakoff, W. (Wladimir), Carapito, R. (Raphaël), Martin, A. (Aurélie), Weingertner, N. (Noëlle), Jacquel, L. (Léa), Hubele, F. (Fabrice), Kuhnert, C. (Cornélia), Jung, S. (Sophie), Schramm, F. (Frederic), Boyer, P. (Pierre), Hansmann, Y. (Yves), Danion, F. (François), Korganow, A. (Anne-Sophie) S. (S), and Guffroy, A. (Aurelien)
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Sciences du Vivant [q-bio]/Médecine humaine et pathologie ,complex mixtures - Abstract
Context Disseminated infections due to Mycobacterium bovis Bacillus Calmette-Guerin (BCG) are unusual and occur mostly in patients with inborn error of immunity (IEI) or acquired immunodeficiency. However, cases of secondary BCGosis due to intravesical BCG instillation have been described. Herein, we present a case of severe BCGosis occurring in an unusual situation. C ase Description We report one case of severe disseminated BCG disease occurring after hematological malignancy in a 48-year-old man without BCG instillation and previously vaccinated in infancy with no complication. Laboratory investigations demonstrated that he was not affected by any known or candidate gene of IEI or intrinsic cellular defect involving IFN gamma pathway. Whole genome sequencing of the BCG strain showed that it was most closely related to the M. bovis BCG Tice strain, suggesting an unexpected relationship between the secondary immunodeficiency of the patient and the acquired BCG infection.& nbsp; Conclusion This case highlights the fact that, in addition to the IEI, physicians, as well as microbiologists and pharmacists should be aware of possible acquired disseminated BCG disease in secondary immunocompromised patients treated in centers that administrate BCG for bladder cancers.
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- 2021
9. Impact d’un traitement par hydroxychloroquine comme DMARD sur l’infection à COVID-19 et les tests diagnostiques du SARS-CoV2 : résultats de la cohorte French RMD Covid 19
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Trefond, L., primary, Drumez, E., additional, Andre, M., additional, Costedoat-Chalumeau, N., additional, Seror, R., additional, Devaux, M., additional, Dernis, E., additional, Dieudonné, Y., additional, Lanteri, A., additional, Melki, I., additional, Queyrel, V., additional, Roumier, M., additional, Schmidt, J., additional, Barnetche, T., additional, Thomas, T., additional, Cacoub, P., additional, Belot, A., additional, Aumaître, O., additional, Richez, C., additional, and Hachulla, E., additional
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- 2021
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10. Apport de la tomographie par émission de positrons (TEP) au cours du syndrome VEXAS
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Betrains, A., Jachiet, V., Dieudonné, Y., Dion, J., Lazaro, E., De Moreuil, C., Ardois, S., Arlet, J.B., Durel, C.A., Delaval, L., Audia, S., Cécile, G., Frederic, V., Moulinet, T., Samson, M., Blockmans, D., Kosmider, O., Georgin-Lavialle, S., Mekinian, A., and Terrier, B.
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- 2023
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11. Le syndrome de cavitation ganglionnaire mésentérique, complication rare de la maladie cœliaque de l’adulte : à propos de quatre cas et revue de la littérature
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Ruch, Y., Labidi, A., Martin, A., Weingertner, N., Hansmann, Y., Lefebvre, N., Andres, E., Argemi, X., and Dieudonné, Y.
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- 2019
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12. Prévalence des vascularites à ANCA en Alsace et association spatiale avec les carrières : étude capture-recapture et analyse géospatiale
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Giorgiutti, S., primary, Dieudonné, Y., additional, Korganow, A.S., additional, and Arnaud, L., additional
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- 2020
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13. Prevalence and associated factors of non-medical use of prescription drugs among adolescents in secondary schools in Buea, Cameroon: a cross-sectional study
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Cyrille Nkouonlack, Ismaila Ngwayi Shifu, Jonas Guy Basseguin Atchou, Christian Eyoum, Dieudonne Yusinyu Dinayen, Dickson Shey Nsagha, and Alfred Kongnyu Njamnshi
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Non-medical use ,Prescription drugs ,Tramadol ,Secondary school students ,Adolescent ,Psychiatry ,RC435-571 - Abstract
Abstract Background The non-medical use of prescription drugs is a growing public health problem worldwide. Recent trends in Cameroon show that the use of psychoactive substances, among which are prescription drugs by adolescents is becoming a public health issue and is linked to juvenile delinquency and violence in schools. However, there is a paucity of data on the burden of this phenomenon among adolescent secondary school students in the country. The aim of this study was to determine the prevalence and factors associated with the use of non-prescription drugs in secondary schools in Buea, South West region of Cameroon. Methods We conducted a cross-sectional study from 1st February 2021 to 30th April 2021. Secondary school students were recruited using a multistage stratified cluster sampling. A modified and standardized version of the World Health Organization student drug-use survey model questionnaire was used. Ethical approval was obtained from the Institutional Review Board of the Faculty of Health Sciences, University of Buea (No. 2021/1273–02/UB/SG/IRB/FHS). The Statistical Package for Social Sciences, IBM SPSS Statistics for Windows, Version 25.0. was used for data analysis. Descriptive statistics were used to describe the sociodemographic characteristics of participants. Univariate and multivariate logistic regression models were used to explore associated factors of non-medical use of prescription drugs. Results A total of 570 participants were enrolled for the study, and 510 participants responded giving a response rate of 89.5%. The prevalence of non-medical use of prescription drugs was 15.3%, tramadol being the most used. Motivators for non-medical use of prescription drugs were “to work longer”, “to be courageous”, and “curiosity”. Logistic regression results showed that alcohol consumption [OR 3.68; 95% CI: 2.24–6.06; p
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- 2023
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14. Trisomie 21 à l’âge adulte : dysimmunité et risque infectieux
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Dieudonné, Y., primary, Guffroy, A., additional, Uring-Lambert, B., additional, Goetz, J., additional, Schneider, F., additional, Bilbaut, P., additional, Sauder, P., additional, Alembik, Y., additional, and Korganow, A.S., additional
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- 2016
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15. Drépanocytose à l’âge adulte, mycoplasme et agglutinines froides, à propos de 2 observations
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Fertu, E., primary, Haaser, E., additional, Dieudonné, Y., additional, Bauer, S., additional, Levy, D., additional, Rondeau-Lutz, M., additional, and Weber, J.-C., additional
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- 2016
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16. Paraplégie révélatrice d’une hyperoxalurie primitive
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Dieudonné, Y., primary, Oswald, P., additional, Gressel, A., additional, Léon, E., additional, Kribs, M., additional, Eprinchard, L., additional, and Dimitrov, Y., additional
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- 2015
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17. Antidiabetic effect of Ceiba pentandra extract on streptozotocin-induced non-insulin-dependent diabetic (NIDDM) rats
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Paul Désiré D, Dzeufiet, Dieudonné Y, Ohandja, Léonard, Tédong, Emmanuel Acha, Asongalem, Théophile, Dimo, Selestin D, Sokeng, and Pierre, Kamtchouing
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Research Paper - Abstract
The aim of this work was to investigate the effect of daily oral administration of root bark methylene chloride/methanol extract of Ceiba pentandra (Linn) in streptozotocin-induced type-2 diabetic rats, and the effect of this treatment on the physiological and metabolic parameters that are related in diabetic animals. The diabetic rats were separated into four groups and each given the following samples by gavage, daily for 28 days: vehicle (diabetic control), Ceiba pentandra extract at the dose of 40 mg/kg, Ceiba pentandra extract at the dose of 75 mg/kg and glibenclamide (5 mg/kg). All the parameters were also determined in healthy (non diabetic) rats for comparison. The methylene chloride/methanol extract of Ceiba pentandra treatment significantly reduced the intake of both food and water as well as the levels of blood glucose, serum cholesterol, triglyceride, creatinine and urea, in comparison with diabetic controls. The treatment also improves impaired glucose tolerance but no effect was observed in the level of hepatic glycogen. The effect of Ceiba pentandra (40 mg/kg) was more prominent when compared to glibenclamide in lowering blood glucose, with the added benefit of considerably reducing serum cholesterol and triglyceride concentrations. The results of this experimental animal study indicated that Ceiba pentandra possesses antidiabetic activity; and thus is capable of ameliorating hyperglycaemia in streptozotocin-induced type-2 diabetic rats and is a potential source for isolation of new orally active agent(s) for anti-diabetic therapy.
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- 2010
18. Antidiabetic effect of Ceiba pentandra extract on streptozo-tocin-induced non-insulin-dependent diabetic (niddm) rats
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Selestin Dongmo Sokeng, Pierre Kamtchouing, Théophile Dimo, Paul Désiré Djomeni Dzeufiet, Emmanuel Acha Asongalem, Leonard Tedong, and Dieudonné Y Ohandja
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Creatinine ,biology ,Traditional medicine ,Triglyceride ,business.industry ,Ceiba ,Type 2 diabetes ,Pharmacology ,medicine.disease ,Streptozotocin ,biology.organism_classification ,Glibenclamide ,Impaired glucose tolerance ,chemistry.chemical_compound ,Complementary and alternative medicine ,chemistry ,Oral administration ,Drug Discovery ,medicine ,business ,medicine.drug - Abstract
The aim of this work was to investigate the effect of daily oral administration of root bark methylene chloride/methanol extract of Ceiba pentandra (Linn) in streptozotocin-induced type-2 diabetic rats, and the effect of this treatment on the physiological and metabolic parameters that are related in diabetic animals. The diabetic rats were separated into four groups and each given the following samples by gavage, daily for 28 days: vehicle (diabetic control), Ceiba pentandra extract at the dose of 40 mg/kg, Ceiba pentandra extract at the dose of 75 mg/kg and glibenclamide (5 mg/kg). All the parameters were also determined in healthy (non diabetic) rats for comparison. The methylene chloride/methanol extract of Ceiba pentandra treatment significantly reduced the intake of both food and water as well as the levels of blood glucose, serum cholesterol, triglyceride, creatinine and urea, in comparison with diabetic controls. The treatment also improves impaired glucose tolerance but no effect was observed in the level of hepatic glycogen. The effect of Ceiba pentandra (40 mg/kg) was more prominent when compared to glibenclamide in lowering blood glucose, with the added benefit of considerably reducing serum cholesterol and triglyceride concentrations. The results of this experimental animal study indicated that Ceiba pentandra possesses antidiabetic activity; and thus is capable of ameliorating hyperglycaemia in streptozotocin-induced type-2 diabetic rats and is a potential source for isolation of new orally active agent(s) for anti-diabetic therapy.
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- 2007
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19. Traceability of Blood Transfusions and Reporting of Adverse Reactions in Developing Countries: A Six-Year Postpilot Phase Experience in Burkina Faso
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Salam Sawadogo, Koumpingnin Nebie, Tieba Millogo, Sonia Sontie, Ashmed Nana, Honorine Dahourou, Dieudonné Yentema Yonli, Jean-Baptiste Tapko, Jean-Claude Faber, Eléonore Kafando, and Véronique Deneys
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Abstract
Traceability is an essential tool for haemovigilance and transfusion safety. In Burkina Faso, the implementation of haemovigilance has been achieved as part of a pilot project from 2005 to 2009. Our study aims to evaluate the traceability of blood transfusions and reporting of adverse reactions over the 6-year postpilot phase. A cross-sectional study including all blood units ordered between 2010 and 2015 has been conducted in public and private health care facilities supplied with blood products by the transfusion center of Bobo-Dioulasso. The complete traceability was possible for 83.5% of blood units delivered. Adverse reactions were reported in 107 cases representing 2.1/1,000 blood units per annum. Transfusions of wrong blood to wrong patient were reported in 13 cases. Our study shows that the haemovigilance system in Burkina Faso must be improved. Healthcare workers have to be sensitized on how traceability and haemovigilance could impact the quality of care provided to patients.
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- 2018
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20. Neurological manifestations in patients with VEXAS syndrome.
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Bert-Marcaz C, Fortanier É, Briantais A, Faucher B, Bourguiba R, Swiader L, Schleinitz N, Corazza G, Jean R, Bigot A, Marianetti-Guingel P, Kostine M, Outh R, Dieudonné Y, Lazaro E, Vial G, Palat S, Frachet S, De Almeida Chaves S, Vinzio S, Sacré K, Robert M, Comont T, Dion J, Girardie P, Lacombe V, Langlois V, Jachiet V, Decker P, Moulinet T, Grosleron S, Broner J, Guilpain P, Samson M, Terrier B, Georgin-Lavialle S, Attarian S, Mekinian A, Delmont E, and Ebbo M
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- Humans, Male, Retrospective Studies, Adult, Middle Aged, Female, Registries, France epidemiology, Young Adult, Aged, Adolescent, Nervous System Diseases etiology, Nervous System Diseases epidemiology, Mutation, Child, Ubiquitin-Activating Enzymes genetics
- Abstract
Background: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described syndrome linked to somatic mutations in the UBA1 gene, causing systemic autoinflammatory manifestations. To date, few data are available concerning neurological manifestations. The aim of this study was to describe their prevalence, clinical spectrum and outcome under treatment., Methods: Retrospective multicentre study including patients with VEXAS syndrome from the French VEXAS Registry between November 2020 and March 2023. Additional cases were included after a national call for observations. Each patient with confirmed UBA1 somatic mutation and neurological manifestation was reviewed during multidisciplinary meetings. Clinical, radiological, biological characteristics, treatments, and outcome were described., Results: Of the 291 patients included in the French VEXAS Registry, 17 (6%) had central (CNS) or peripheral (PNS) neurological involvement, with 13 additional cases identified by the national call. Of the 30 patients included, 21 (70%) had PNS involvement and 9 (30%) CNS involvement. PNS involvements included polyneuropathy (n = 9), cranial nerve involvement (n = 7), non-length-dependent polyneuropathy (n = 5) and multiple mononeuropathy (n = 3). CNS involvements included encephalopathy (n = 6), lacunar cerebral infarcts (n = 4), posterior reversible encephalopathy syndrome (n = 3) and optic perineuritis (n = 2). Most neurological manifestations were improved by steroids (68%), steroid-sparing agents were used in 90% [most frequently ruxolitinib (n = 11), azacitidine (n = 8), tocilizumab (n = 4)], and mortality was 30% after a median follow-up of 4 years., Conclusions: Neurological manifestations may occur in a small but possibly underestimated proportion of patients with VEXAS syndrome, are heterogeneous and can involve both PNS and CNS., Competing Interests: Declarations. Conflicts of interest: No author has any conflict of interest to declare., (© 2025. Springer-Verlag GmbH Germany, part of Springer Nature.)
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- 2025
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21. Defective germinal center selection results in persistence of self-reactive B cells from the primary to the secondary repertoire in Primary Antiphospholipid Syndrome.
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Dieudonné Y, Lorenzetti R, Rottura J, Janowska I, Frenger Q, Jacquel L, Vollmer O, Carbone F, Chengsong Z, Luka M, Depauw S, Wadier N, Giorgiutti S, Nespola B, Herb A, Voll RE, Guffroy A, Poindron V, Ménager M, Martin T, Soulas-Sprauel P, Rizzi M, Korganow AS, and Gies V
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- Humans, Female, Adult, Middle Aged, Male, Antibodies, Antiphospholipid immunology, Receptors, Antigen, B-Cell metabolism, Receptors, Antigen, B-Cell immunology, Single-Cell Analysis, Autoantibodies immunology, Aged, Germinal Center immunology, Antiphospholipid Syndrome immunology, B-Lymphocytes immunology
- Abstract
Primary antiphospholipid syndrome (PAPS) is a life-threatening clotting disorder mediated by pathogenic autoantibodies. Here we dissect the origin of self-reactive B cells in human PAPS using peripheral blood and bone marrow of patients with triple-positive PAPS via combined single-cell RNA sequencing, B cell receptors (BCR) repertoire profiling, CITEseq analysis and single cell immortalization. We find that antiphospholipid (aPL)-specific B cells are present in the naive compartment, polyreactive, and derived from the natural repertoire. Furthermore, B cells with aPL specificities are not eliminated in patients with PAPS, persist until the memory and long-lived plasma cell stages, likely after defective germinal center selection, while becoming less polyreactive. Lastly, compared with the non-PAPS cells, PAPS B cells exhibit distinct IFN and APRIL signature as well as dysregulated mTORC1 and MYC pathways. Our findings may thus elucidate the survival mechanisms of these autoreactive B cells and suggest potential therapeutic targets for the treatment of PAPS., Competing Interests: Competing interests The authors declare no competing interests., (© 2024. The Author(s).)
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- 2024
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22. Unlocking maintenance-architecting STEP for maintenance and realizing remountable magnet joints.
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van Arkel A, Lamb C, Robinson H, and Dieudonné Y
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The architecture of the Spherical Tokamak for Energy Production (STEP) has been developed to enable a hybrid maintenance approach using ports in the vacuum vessel for a limited list of tasks that must be performed shortly after shutdown, and larger openings to simplify and speed up major refits. Robotic handling systems in zero-human entry facilities will prevent workers from being exposed to the most hazardous environments. While the approach is largely grounded in existing technologies, the scale and environment of STEP will require significant technology development. Notably, programmes have been established to develop service connections and in-vessel robotic technologies. The engineering integration of the maintenance strategy into the tokamak remains a priority, as does ongoing work to simplify and reduce the cost of the buildings required to facilitate maintenance. Remountable magnet joints are critical to ensuring life-limited magnet components can be replaced during the STEP lifetime and realizing the STEP maintenance strategy. It is a high-risk endeavour owing to the low technology maturity of the potential solutions and owing to the tough and intertwined technical challenges and constraints imposed by both the fundamental physics and the STEP requirements and architecture. An integrated design approach has been taken to balance many competing factors and integrate with interfacing systems, and a multi-faceted technology development programme has been established to address technical risk and to inform, verify and validate the STEP remountable magnet design. This article is part of the theme issue 'Delivering Fusion Energy - The Spherical Tokamak for Energy Production (STEP)'.
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- 2024
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23. HHV8-Positive Multicentric Castleman's Disease and Thrombotic Thrombocytopenic Purpura among HIV-Positive Patients.
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Pasquer R, Dieudonné Y, Decours P, Hinschberger O, Nicolae A, and Martinot M
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Castleman's disease (CD) and thrombotic thrombocytopenic purpura (TTP) are rare diseases that can affect the general population, especially those with HIV. Owing to their rarity, the association between CD and TTP remains insufficiently understood. In this study, we present a case of a 53-year-old patient with controlled HIV infection who presented with fever, lymphadenopathy, severe anaemia, and thrombocytopenia. After a series of tests, the diagnosis was concurrent human herpesvirus 8 (HHV8)-related multicentric CD (MCD) and TTP. Only four male patients were previously reported having this association, with HHV8 present in four and HIV in three patients, suggesting that coinfection with HHV8 and HIV is a pivotal factor in MCD with TTP occurrence., Learning Points: Castleman's disease (CD) and thrombotic thrombocytopenic purpura (TTP) are rare diseases, and their association remains extremely uncommon.We report a case of multicentric CD (MCD) with TTP in a 53-year-old male patient with HIV.Only five patients, including ours, have been reported as having both MCD and TTP, with all five having HHV8 and four having HIV. Thus, coinfection with HHV8 and HIV may be a potential pivotal factor in the occurrence of MCD with TTP., Competing Interests: Conflicts of Interests: The Authors declare that there are no competing interests., (© EFIM 2024.)
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- 2024
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24. Serious infections in patients with VEXAS syndrome: data from the French VEXAS registry.
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de Valence B, Delaune M, Nguyen Y, Jachiet V, Heiblig M, Jean A, Riescher Tuczkiewicz S, Henneton P, Guilpain P, Schleinitz N, Le Guenno G, Lobbes H, Lacombe V, Ardois S, Lazaro E, Langlois V, Outh R, Vinit J, Martellosio JP, Decker P, Moulinet T, Dieudonné Y, Bigot A, Terriou L, Vlakos A, de Maleprade B, Denis G, Broner J, Kostine M, Humbert S, Lifermann F, Samson M, Pechuzal S, Aouba A, Kosmider O, Dion J, Grosleron S, Bourguiba R, Terrier B, Georgin-Lavialle S, Fain O, Mekinian A, Morgand M, Comont T, and Hadjadj J
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- Aged, Humans, Arthralgia, Azacitidine, Mutation, Retrospective Studies, Bacteriophages, Janus Kinase Inhibitors, Myelodysplastic Syndromes, Skin Diseases, Genetic
- Abstract
Introduction: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an acquired autoinflammatory monogenic disease with a poor prognosis whose determinants are not well understood. We aimed to describe serious infectious complications and their potential risk factors., Methods: Retrospective multicentre study including patients with VEXAS syndrome from the French VEXAS Registry. Episodes of serious infections were described, and their risk factors were analysed using multivariable Cox proportional hazards models., Results: Seventy-four patients with 133 serious infections were included. The most common sites of infection were lung (59%), skin (10%) and urinary tract (9%). Microbiological confirmation was obtained in 76%: 52% bacterial, 30% viral, 15% fungal and 3% mycobacterial. Among the pulmonary infections, the main pathogens were SARS-CoV- 2 (28%), Legionella pneumophila (21%) and Pneumocystis jirovecii (19%). Sixteen per cent of severe infections occurred without any immunosuppressive treatment and with a daily glucocorticoid dose ≤10 mg. In multivariate analysis, age >75 years (HR (95% CI) 1.81 (1.02 to 3.24)), p.Met41Val mutation (2.29 (1.10 to 5.10)) and arthralgia (2.14 (1.18 to 3.52)) were associated with the risk of serious infections. JAK inhibitors were most associated with serious infections (3.84 (1.89 to 7.81)) compared with biologics and azacitidine. After a median follow-up of 4.4 (2.5-7.7) years, 27 (36%) patients died, including 15 (56%) due to serious infections., Conclusion: VEXAS syndrome is associated with a high incidence of serious infections, especially in older patients carrying the p.Met41Val mutation and treated with JAK inhibitors. The high frequency of atypical infections, especially in patients without treatment, may indicate an intrinsic immunodeficiency., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2024
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25. Paraneoplastic pemphigus uncovers distinct clinical and biological phenotypes of western unicentric Castleman disease.
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Dieudonné Y, Silvestrini MA, Dossier A, Meignin V, Jouenne F, Mahévas T, Bouaziz JD, Jackson MA, Mordant P, Poirot J, Onodi F, Calvani J, Hourseau M, Evrard D, Berisha M, Perrin F, Danel C, Borie R, Galicier L, Mourah S, Bengoufa D, Oksenhendler E, Grootenboer-Mignot S, and Boutboul D
- Subjects
- Humans, Autoantibodies, Pemphigus diagnosis, Pemphigus etiology, Castleman Disease pathology, Myasthenia Gravis diagnosis, Paraneoplastic Syndromes etiology, Paraneoplastic Syndromes diagnosis
- Abstract
Unicentric Castleman disease (UCD) is a lymphoproliferative disease of unknown cause. Paraneoplastic pemphigus (PNP) is a major complication shown to be associated with a poor prognosis, with particular severity in patients with bronchiolitis obliterans (BO). This study describes the clinical and biological characteristics of UCD-PNP patients in a large Western cohort. A total of 148 patients diagnosed with UCD were identified, including 14 patients with a defined PNP. PNP was significantly associated with myasthenia gravis (MG) and FDC sarcoma during follow-up (FDCS). PNP was also significantly associated with reduced survival. These data, together with a multivariate analysis by principal components, led to the identification of UCD-PNP as a group at risk of MG, FDCS and death. PDGFRB sequencing performed on UCD lesions from six patients found the gain-of-function p.N666S variant in two. Interestingly, both patients had hyaline-vascular UCD subtype, were in the UCD-PNP subgroup and had FDCS. Sera from 25 UCD-PNP patients and 6 PNP patients without UCD were tested for PNP-associated autoantibodies. Sera from UCD-PNP patients had a strong reactivity against the N-terminal domain of recombinant periplakin (rPPL, 82%) and showed reactivity against at least two domains of rPPL. These features were not found in patients with UCD alone or in the PNP group without UCD. These data indicate that UCD-PNP patients belong to a subgroup sharing strong clinical and biological identity that might help to decipher the different dynamics of UCD natural history., (© 2023 British Society for Haematology and John Wiley & Sons Ltd.)
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- 2023
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26. Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis.
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Guffroy A, Dieudonné Y, Gies V, and Danion F
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- Alleles, Gain of Function Mutation, Humans, Lung pathology, Aspergillosis, Lung Diseases, Fungal
- Published
- 2022
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27. Impact of hydroxychloroquine used as DMARD on SARS-CoV-2 tests and infection evolution in a population of 871 patients with inflammatory rheumatic and musculoskeletal diseases.
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Trefond L, Drumez E, Andre M, Costedoat-Chalumeau N, Seror R, Devaux M, Dernis E, Dieudonné Y, El Mahou S, Lanteri A, Melki I, Queyrel V, Roumier M, Schmidt J, Barnetche T, Thomas T, Cacoub P, Belot A, Aumaitre O, Richez C, and Hachulla E
- Subjects
- Humans, Hydroxychloroquine adverse effects, SARS-CoV-2, Antirheumatic Agents adverse effects, Musculoskeletal Diseases, COVID-19 Drug Treatment
- Published
- 2021
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28. Case Report: Acquired Disseminated BCG in the Context of a Delayed Immune Reconstitution After Hematological Malignancy.
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Gies V, Dieudonné Y, Morel F, Sougakoff W, Carapito R, Martin A, Weingertner N, Jacquel L, Hubele F, Kuhnert C, Jung S, Schramm F, Boyer P, Hansmann Y, Danion F, Korganow AS, and Guffroy A
- Subjects
- Administration, Intravesical, Antineoplastic Combined Chemotherapy Protocols adverse effects, Antitubercular Agents therapeutic use, BCG Vaccine administration & dosage, BCG Vaccine adverse effects, Host-Pathogen Interactions, Humans, Male, Middle Aged, Mycobacterium bovis drug effects, Mycobacterium bovis immunology, Opportunistic Infections drug therapy, Opportunistic Infections immunology, Risk Factors, Treatment Outcome, Tuberculosis, Pulmonary diagnosis, Tuberculosis, Pulmonary drug therapy, Tuberculosis, Pulmonary immunology, Urinary Bladder Neoplasms drug therapy, Urinary Bladder Neoplasms immunology, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Hematologic Neoplasms drug therapy, Immune Reconstitution, Immunocompromised Host, Mycobacterium bovis pathogenicity, Opportunistic Infections microbiology, Tuberculosis, Pulmonary microbiology
- Abstract
Context: Disseminated infections due to Mycobacterium bovis Bacillus Calmette-Guérin (BCG) are unusual and occur mostly in patients with inborn error of immunity (IEI) or acquired immunodeficiency. However, cases of secondary BCGosis due to intravesical BCG instillation have been described. Herein, we present a case of severe BCGosis occurring in an unusual situation., Case Description: We report one case of severe disseminated BCG disease occurring after hematological malignancy in a 48-year-old man without BCG instillation and previously vaccinated in infancy with no complication. Laboratory investigations demonstrated that he was not affected by any known or candidate gene of IEI or intrinsic cellular defect involving IFNγ pathway. Whole genome sequencing of the BCG strain showed that it was most closely related to the M. bovis BCG Tice strain, suggesting an unexpected relationship between the secondary immunodeficiency of the patient and the acquired BCG infection., Conclusion: This case highlights the fact that, in addition to the IEI, physicians, as well as microbiologists and pharmacists should be aware of possible acquired disseminated BCG disease in secondary immunocompromised patients treated in centers that administrate BCG for bladder cancers., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Gies, Dieudonné, Morel, Sougakoff, Carapito, Martin, Weingertner, Jacquel, Hubele, Kuhnert, Jung, Schramm, Boyer, Hansmann, Danion, Korganow and Guffroy.)
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- 2021
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29. Follow-up of COVID-19 patients: LA is transient but other aPLs are persistent.
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Vollmer O, Tacquard C, Dieudonné Y, Nespola B, Sattler L, Grunebaum L, Gies V, Radosavljevic M, Kaeuffer C, Hansmann Y, Weber JC, Martin T, Arnaud L, Morel O, Guffroy A, Collange O, Mertes PM, Korganow AS, Delabranche X, and Poindron V
- Subjects
- Antibodies, Anticardiolipin, Antibodies, Antiphospholipid, Follow-Up Studies, Humans, Lupus Coagulation Inhibitor, SARS-CoV-2, Antiphospholipid Syndrome, COVID-19
- Published
- 2021
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30. B cells in primary antiphospholipid syndrome: Review and remaining challenges.
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Dieudonné Y, Guffroy A, Poindron V, Sprauel PS, Martin T, Korganow AS, and Gies V
- Subjects
- Antibodies, Antiphospholipid, B-Lymphocytes, Humans, Phenotype, Antiphospholipid Syndrome, Autoimmune Diseases
- Abstract
It is now widely accepted that antiphospholipid antibodies (aPL) have direct pathogenic effects and that B cells, notably through aPL production, play a key role in the development of antiphospholipid syndrome (APS). Recent findings strengthened the implication of B cells with the description of specific B cell phenotype abnormalities and inborn errors of immunity involving B cell signaling in APS patients. In addition, it has been shown in preclinical models that cross-reactivity between APS autoantigens and mimotopes expressed by human gut commensals can lead to B cell tolerance breakdown and are sufficient for APS development. However, B cell targeting therapies are surprisingly not as effective as expected in APS compared to other autoimmune diseases. Elucidation of the B cell tolerance breakdown mechanisms in APS patients may help to develop and guide the use of novel therapeutic agents that target B cells or specific immune pathway., (Copyright © 2021. Published by Elsevier B.V.)
- Published
- 2021
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31. Author response: Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis.
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Dieudonné Y and Meyer A
- Subjects
- Humans, Prevalence, Myositis complications, Myositis epidemiology, Myositis, Inclusion Body epidemiology
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- 2020
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32. Beyond Anti-viral Effects of Chloroquine/Hydroxychloroquine.
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Gies V, Bekaddour N, Dieudonné Y, Guffroy A, Frenger Q, Gros F, Rodero MP, Herbeuval JP, and Korganow AS
- Subjects
- Angiotensin-Converting Enzyme 2, Antigen Presentation, COVID-19, Coronavirus Infections drug therapy, Coronavirus Infections epidemiology, Coronavirus Infections immunology, Humans, Lysosomes immunology, Lysosomes virology, Peptidyl-Dipeptidase A immunology, Pneumonia, Viral drug therapy, Pneumonia, Viral epidemiology, Pneumonia, Viral immunology, SARS-CoV-2, Toll-Like Receptors immunology, Virus Replication immunology, Antiviral Agents therapeutic use, Betacoronavirus physiology, Hydroxychloroquine therapeutic use, Pandemics, Virus Replication drug effects
- Abstract
As the world is severely affected by COVID-19 pandemic, the use of chloroquine and hydroxychloroquine in prevention or for the treatment of patients is allowed in multiple countries but remained at the center of much controversy in recent days. This review describes the properties of chloroquine and hydroxychloroquine, and highlights not only their anti-viral effects but also their important immune-modulatory properties and their well-known use in autoimmune diseases, including systemic lupus and arthritis. Chloroquine appears to inhibit in vitro SARS virus' replication and to interfere with SARS-CoV2 receptor (ACE2). Chloroquine and hydroxychloroquine impede lysosomal activity and autophagy, leading to a decrease of antigen processing and presentation. They are also known to interfere with endosomal Toll-like receptors signaling and cytosolic sensors of nucleic acids, which result in a decreased cellular activation and thereby a lower type I interferons and inflammatory cytokine secretion. Given the antiviral and anti-inflammatory properties of chloroquine and hydroxychloroquine, there is a rational to use them against SARS-CoV2 infection. However, the anti-interferon properties of these molecules might be detrimental, and impaired host immune responses against the virus. This duality could explain the discrepancy with the recently published studies on CQ/HCQ treatment efficacy in COVID-19 patients. Moreover, although these treatments could be an interesting potential strategy to limit progression toward uncontrolled inflammation, they do not appear per se sufficiently potent to control the whole inflammatory process in COVID-19, and more targeted and/or potent therapies should be required at least in add-on., (Copyright © 2020 Gies, Bekaddour, Dieudonné, Guffroy, Frenger, Gros, Rodero, Herbeuval and Korganow.)
- Published
- 2020
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33. Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue.
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Dieudonné Y, Uring-Lambert B, Jeljeli MM, Gies V, Alembik Y, Korganow AS, and Guffroy A
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- Adolescent, Adult, Down Syndrome complications, Female, Humans, Immunologic Deficiency Syndromes complications, Immunologic Memory, Infections etiology, Male, Middle Aged, Phenotype, Young Adult, B-Lymphocytes cytology, Down Syndrome immunology, Immunologic Deficiency Syndromes immunology, Infections immunology, T-Lymphocytes cytology
- Abstract
Children with Down syndrome (DS) suffer from recurrent respiratory infections, which represent the leading cause of mortality during childhood. This susceptibility to infections is usually considered multifactorial and related to both impaired immune function and non-immunological factors. Infections are also one of the top causes of death in DS at adulthood. DS is considered an immunodeficiency with syndromic features by some researchers because of this high rate of infection and the immunological characteristics observed in children with DS. Little is known about the immune status of adult patients. Herein, we report the clinical and immune phenotype of 44 adults with DS, correlated with their infectious history. We observed that these adults had an aberrant lymphocyte phenotype with decreased naïve/memory T cell ratios and reduced numbers of switched memory B cells. The lower incidence of infectious events at adulthood distinguish DS from other inborn errors of immunity. Primary immunodeficiency-related features in DS could explain the increased risk of developing autoimmunity, malignancies, and infections. During adulthood, this immune dysfunction may be compensated for in mid-life, and infection-related mortality observed in older patients might be favored by multiple factors such as neurological impairment or nosocomial antigen exposure. Clinical Trial Registration: www.ClinicalTrials.gov, identifier NCT01663675 (August 13, 2012)., (Copyright © 2020 Dieudonné, Uring-Lambert, Jeljeli, Gies, Alembik, Korganow and Guffroy.)
- Published
- 2020
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34. Granulomatosis-associated myositis: High prevalence of sporadic inclusion body myositis.
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Dieudonné Y, Allenbach Y, Benveniste O, Leonard-Louis S, Hervier B, Mariampillai K, Nespola B, Lannes B, Echaniz-Laguna A, Wendling D, Von Frenckell C, Poursac N, Mortier E, Lavigne C, Hinschberger O, Magnant J, Gottenberg JE, Geny B, Sibilia J, and Meyer A
- Subjects
- Adult, Aged, Aged, 80 and over, Belgium epidemiology, Comorbidity, Female, France epidemiology, Humans, Male, Middle Aged, Prevalence, Granuloma epidemiology, Muscle, Skeletal pathology, Myositis epidemiology, Myositis, Inclusion Body pathology, Sarcoidosis epidemiology
- Abstract
Objective: To refine the predictive significance of muscle granuloma in patients with myositis., Methods: A group of 23 patients with myositis and granuloma on muscle biopsy (granuloma-myositis) from 8 French and Belgian centers was analyzed and compared with (1) a group of 23 patients with myositis without identified granuloma (control-myositis) randomly sampled in each center and (2) a group of 20 patients with sporadic inclusion body myositis (sIBM) without identified granuloma (control-sIBM)., Results: All but 2 patients with granuloma-myositis had extramuscular involvement, including signs common in sarcoidosis that were systematically absent in the control-myositis and the control-sIBM groups. Almost half of patients with granuloma-myositis matched the diagnostic criteria for sIBM. In these patients, other than the granuloma, the characteristics of the myopathy and its nonresponse to treatment were similar to the control-sIBM patients. Aside from 1 patient with myositis overlapping with systemic sclerosis, the remaining patients with granuloma-myositis did not match the criteria for a well-defined myositis subtype, suggesting pure sarcoidosis. Matching criteria for sIBM was the sole feature independently associated with nonresponse to myopathy treatment in patients with granuloma-myositis., Conclusion: Patients with granuloma-myositis should be carefully screened for sIBM associated with sarcoidosis in order to best tailor their care., (© 2019 American Academy of Neurology.)
- Published
- 2020
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35. Primary immunodeficiencies and lymphoma: a systematic review of literature.
- Author
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Herber M, Mertz P, Dieudonné Y, Guffroy B, Jung S, Gies V, Korganow AS, and Guffroy A
- Subjects
- Child, Herpesvirus 4, Human, Humans, Epstein-Barr Virus Infections complications, Epstein-Barr Virus Infections epidemiology, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes epidemiology, Immunologic Deficiency Syndromes therapy, Lymphoma, Large B-Cell, Diffuse, Primary Immunodeficiency Diseases
- Abstract
The management of lymphoma in patients with primary immunodeficiency (PID) is challenging because of its poor prognosis and complex therapeutic approaches. We conducted a systematic literature review of case-reports, case-series, and cohorts indexed in MEDLINE reporting the association of lymphoma and PID. One hundred and eighty-two articles were selected out of 787. We identified 386 cases. Median age at diagnosis of PID and lymphoma was 9.5 and 12 years old, respectively. T-cell deficiencies were the main PIDs associated with lymphoma (57%). The most prevalent lymphoma was diffuse large B-cell lymphoma (33.5%). Epstein-Barr Virus-driven lymphomas were mostly observed in innate immunodeficiencies (when reported). Complete response to treatment was observed in 65.8% of the cases. Death occurred in 38.2%. Few allogenic stem cell transplantations were performed (29 cases). Our detailed analysis of the literature provides a landscape of lymphoma's occurrence in PID. Devoted studies in specific sub-groups of patients at risk are needed to develop dedicated protocols.
- Published
- 2020
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36. Transitional B cells in quiescent SLE: An early checkpoint imprinted by IFN.
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Dieudonné Y, Gies V, Guffroy A, Keime C, Bird AK, Liesveld J, Barnas JL, Poindron V, Douiri N, Soulas-Sprauel P, Martin T, Meffre E, Anolik JH, and Korganow AS
- Subjects
- Adult, Aged, Autoantibodies immunology, B-Lymphocyte Subsets immunology, Female, Humans, Middle Aged, Transcriptome genetics, Antigens, CD19 biosynthesis, Interferons immunology, Lupus Erythematosus, Systemic immunology, Precursor Cells, B-Lymphoid immunology, Toll-Like Receptor 9 immunology
- Abstract
Systemic lupus (SLE) is characterized by a break of B cell tolerance that plays a central role in disease pathophysiology. An early checkpoint defect occurs at the transitional stage leading to the survival of autoreactive B cells and consequently the production of pathogenic autoantibodies. The main purpose of our work was to determine whether transitional B cells, as the most immature naïve B cell subset upstream of pathogenic B cells, display specific features compared to healthy non SLE subjects. Through extensive analysis of transitional B cells from untreated or low treated, mostly Caucasian, SLE patients, we demonstrated that transitional (T1 and T2) B cell frequencies were increased in SLE and positively correlated with disease activity. SLE transitional B cells displayed defects in two closely inter-related molecules (i.e. TLR9 defective responses and CD19 downregulation). RNA sequencing of sorted transitional B cells from untreated patients revealed a predominant overexpression of interferon stimulated genes (ISGs) even out of flares. In addition, early transitional B cells from the bone marrow displayed the highest interferon score, reflecting a B cell interferon burden of central origin. Hence, the IFN signature in transitional B cells is not confined to African American SLE patients and exists in quiescent disease since the medullary stage. These results suggest that in SLE these 3 factors (i.e. IFN imprintment, CD19 downregulation and TLR9 responses impairment) could take part at the early transitional B cell stage in B cell tolerance by-pass, ultimately leading in periphery to the expansion of autoantibodies-secreting cells., (Copyright © 2019 Elsevier Ltd. All rights reserved.)
- Published
- 2019
- Full Text
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37. Control of TLR7-mediated type I IFN signaling in pDCs through CXCR4 engagement-A new target for lupus treatment.
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Smith N, Rodero MP, Bekaddour N, Bondet V, Ruiz-Blanco YB, Harms M, Mayer B, Bader-Meunier B, Quartier P, Bodemer C, Baudouin V, Dieudonné Y, Kirchhoff F, Sanchez Garcia E, Charbit B, Leboulanger N, Jahrsdörfer B, Richard Y, Korganow AS, Münch J, Nisole S, Duffy D, and Herbeuval JP
- Subjects
- Animals, Cytokines biosynthesis, Disease Models, Animal, Disease Progression, Disease Susceptibility, Gene Expression Profiling, Humans, Ligands, Lupus Erythematosus, Systemic drug therapy, Lupus Erythematosus, Systemic etiology, Lupus Erythematosus, Systemic metabolism, Lupus Erythematosus, Systemic pathology, Mice, Protein Binding, Dendritic Cells immunology, Dendritic Cells metabolism, Interferon Type I metabolism, Receptors, CXCR4 metabolism, Signal Transduction, Toll-Like Receptor 7 metabolism
- Abstract
Type I interferons are highly potent cytokines essential for self-protection against tumors and infections. Deregulations of type I interferon signaling are associated with multiple diseases that require novel therapeutic options. Here, we identified the small molecule, IT1t, a previously described CXCR4 ligand, as a highly potent inhibitor of Toll-like receptor 7 (TLR7)-mediated inflammation. IT1t inhibits chemical (R848) and natural (HIV) TLR7-mediated inflammation in purified human plasmacytoid dendritic cells from blood and human tonsils. In a TLR7-dependent lupus-like model, in vivo treatment of mice with IT1t drives drastic reduction of both systemic inflammation and anti-double-stranded DNA autoantibodies and prevents glomerulonephritis. Furthermore, IT1t controls inflammation, including interferon α secretion, in resting and stimulated cells from patients with systemic lupus erythematosus. Our findings highlight a groundbreaking immunoregulatory property of CXCR4 signaling that opens new therapeutic perspectives in inflammatory settings and autoimmune diseases.
- Published
- 2019
- Full Text
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38. IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome.
- Author
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Dieudonné Y, Guffroy A, Vollmer O, Carapito R, and Korganow AS
- Subjects
- Adolescent, Alleles, Antiphospholipid Syndrome complications, Antiphospholipid Syndrome therapy, Autoantibodies blood, Autoantibodies immunology, Biomarkers, Female, Genetic Loci, Genotype, Humans, Immunoglobulins, Intravenous therapeutic use, Immunophenotyping, Magnetic Resonance Imaging, Male, Phenotype, Exome Sequencing, Antiphospholipid Syndrome diagnosis, Antiphospholipid Syndrome genetics, Autoimmunity genetics, Ikaros Transcription Factor genetics, Loss of Function Mutation
- Published
- 2019
- Full Text
- View/download PDF
39. Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center.
- Author
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Guffroy A, Dieudonné Y, Uring-Lambert B, Goetz J, Alembik Y, and Korganow AS
- Subjects
- Adolescent, Adult, Aged, Chromosome Aberrations, Down Syndrome genetics, Down Syndrome metabolism, Female, Hospitalization, Humans, Lymphopenia genetics, Lymphopenia immunology, Lymphopenia metabolism, Male, Middle Aged, Retrospective Studies, Young Adult, Down Syndrome immunology
- Abstract
Background: Down syndrome (DS) is the most common form of viable chromosomal abnormality. DS is associated with recurrent infections, auto-immunity and malignancies in children. Little is known about immunity and infections in DS at adulthood., Methods: We studied two separate group of adults (> 18 years old) with DS in a single referral tertiary center (Strasbourg University Hospital). The first group included 37 ambulatory DS patients between November 2014 and May 2017. We analyzed exhaustive serological and immunobiological parameters, at one point, together with the prevalence of infections, autoimmune manifestations and malignancies. The second group included 64 hospitalized patients (138 stays) in the same center, between January 2005 and December 2016., Results: One hundred and one adult patients with DS were included. Unlike children and despite a global lymphopenia, adults with DS underwent few infections in our ambulatory group. They did not experience any malignancy and, apart from hypothyroidism, they presented only occasional autoimmune manifestations. Hospitalized DS patients were older than ambulatory ones (median age 47 years (18-73) vs. 27 (18-52), p < 0.0001) and admitted mostly for infections (76.8%). Infections were associated with epilepsy and dementia (OR 6.5 (2.2-19), p = 0.001; p = 0.0006 in multivariate analysis) and higher mortality (OR 7.4 (1.4-37), p = 0.01)., Conclusion: Despite persistent immunobiological abnormalities at adulthood, young ambulatory adults with DS remain healthy with a low rate of infections. Infections are associated with neurological degeneration and increase the mortality arguing for a dedicated support of older DS patients., Trial Registration: ClinicalTrials.gov: NCT01663675 (August 13, 2012). Hospital Clinical Research Program (PHRC): number 2012-A00466-37 (Dr Y. Alembik).
- Published
- 2019
- Full Text
- View/download PDF
40. Paraplegia as a presentation of primary hyperoxaluria.
- Author
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Dieudonné Y, Eprinchard L, Léon E, Oswald P, Gressel A, Carre S, and Dimitrov Y
- Subjects
- Bone and Bones pathology, Female, Humans, Hyperoxaluria, Primary genetics, Laminectomy methods, Magnetic Resonance Imaging, Middle Aged, Nephrocalcinosis complications, Paraplegia etiology, Renal Dialysis methods, Spinal Cord Compression diagnostic imaging, Spinal Cord Compression surgery, Waiting Lists, Calcium Oxalate blood, Hyperoxaluria, Primary diagnosis, Kidney Failure, Chronic therapy, Spinal Cord Compression complications
- Abstract
30% of the patients suffering from hyperoxaluria type 1 are diagnosed only when they already had reached end-stage renal disease. We report the case of a 57-year-old woman with history of chronic kidney failure presenting with paraplegia due to spinal cord compression by thoracic mass-like lesions. Bone biopsy specimen obtained by decompressive laminectomy revealed calcium oxalate deposits. Once diagnosis of primary hyperoxaluria was confirmed, she underwent haemodialysis with incomplete improvement of her neurological disorders and was registered on the waiting list for transplantation.
- Published
- 2018
- Full Text
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41. Antidiabetic effect of Ceiba pentandra extract on streptozotocin-induced non-insulin-dependent diabetic (NIDDM) rats.
- Author
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Dzeufiet PD, Ohandja DY, Tédong L, Asongalem EA, Dimo T, Sokeng SD, and Kamtchouing P
- Abstract
The aim of this work was to investigate the effect of daily oral administration of root bark methylene chloride/methanol extract of Ceiba pentandra (Linn) in streptozotocin-induced type-2 diabetic rats, and the effect of this treatment on the physiological and metabolic parameters that are related in diabetic animals. The diabetic rats were separated into four groups and each given the following samples by gavage, daily for 28 days: vehicle (diabetic control), Ceiba pentandra extract at the dose of 40 mg/kg, Ceiba pentandra extract at the dose of 75 mg/kg and glibenclamide (5 mg/kg). All the parameters were also determined in healthy (non diabetic) rats for comparison. The methylene chloride/methanol extract of Ceiba pentandra treatment significantly reduced the intake of both food and water as well as the levels of blood glucose, serum cholesterol, triglyceride, creatinine and urea, in comparison with diabetic controls. The treatment also improves impaired glucose tolerance but no effect was observed in the level of hepatic glycogen. The effect of Ceiba pentandra (40 mg/kg) was more prominent when compared to glibenclamide in lowering blood glucose, with the added benefit of considerably reducing serum cholesterol and triglyceride concentrations. The results of this experimental animal study indicated that Ceiba pentandra possesses antidiabetic activity; and thus is capable of ameliorating hyperglycaemia in streptozotocin-induced type-2 diabetic rats and is a potential source for isolation of new orally active agent(s) for anti-diabetic therapy.
- Published
- 2006
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