Philippe JEAN-PIERRE

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• Type de publi. : Article dans une revue
• Date de publi. : 10/05/2025
• Auteurs : Annelie TuressonAfsaneh KoochekMargaretha NydahlJean-Marc LemaitrePaul BensadounLaurent O MartinezSophie GuyonnetYves RollandBruno VellasPhilipe de Souto BarretoLauréane BrigitteAgathe MilhetElodie PaezEmeline MullerSabine Le FlochCatherine TakedaCatherine FaisantFrançoise LalaGabor Abellan van KanZara SteinmeyerAntoine PiauTony MacaronDavide AngioniPierre-Jean OussetMélanie ComtéNathalie DaniaudFanny Boissou-ParachaudSandrine AndrieuChristelle CantetFabien PillardMarie FaruchPierre PayouxCatherine TakedaNeda TavassoliMarie DorardBénédicte RazatCamille ChampignyCédric DrayJean-Philippe PradèreAngelo PariniYohan SantinDominique LanginPierre GourdyAnne BouloumiéNicolas FazilleauRoland LiblauJean‐Charles GuéryMichel SimonNicolas GaudenzioLuciana BostanHicham El CostaNabila Jabrane FerratPhilippe ValetIsabelle AderValérie PlanatLouis CasteillaPatrice PeranCyrille DelpierreClaire RamponNoelie DavezacBruno GuiardNathalie VergnolleJean-Paul MottaSara DjebaliPauline FlochCéline DeraisonChrystelle BonnartJean-Emmanuel SarryNicola ColeyJessica Pontary
• Organismes : Uppsala University Institut Hospitalier Universitaire HealthAge Uppsala University Uppsala University Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB) Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB) Institut Hospitalier Universitaire HealthAge Institut des Maladies Métaboliques et Casdiovasculaires Institut Hospitalier Universitaire HealthAge Centre d'Epidémiologie et de Recherche en santé des POPulations Institut Hospitalier Universitaire HealthAge Centre d'Epidémiologie et de Recherche en santé des POPulations Institut Hospitalier Universitaire HealthAge Centre d'Epidémiologie et de Recherche en santé des POPulations Institut Hospitalier Universitaire HealthAge Centre d'Epidémiologie et de Recherche en santé des POPulations Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge Institut Hospitalier Universitaire HealthAge
• Publié dans GeroScience le 30/10/2020

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Résumé : Appetite loss is a common clinical condition in older adulthood, but how this condition associates with biological aging remains unknown. The present study aims to examine the associations of biological aging markers with appetite loss in community-dwelling people aged 21 to 102 years. This retrospective case-control study used baseline data from the INSPIRE-T cohort in Toulouse, France. Each of the 49 cases with appetite loss was sex-and age-matched to two controls without appetite loss (n = 147; median age of 79 years, interquartile range: 19.5; 67% women). Appetite loss was assessed using a single yes-no question from the World Health Organization´s Integrated Care for Older People screening tool. Biomarkers (first-and second-generation DNA methylation-based epigenetic clocks [Horvath, Hannum, PhenoAge, and GrimAge], the inflammatory aging clock iAge, and Adenosine triphosphatase inhibitory factor 1-IF1) were derived from blood samples. Logistic regression analyzed the associations of these markers with appetite loss. In fully adjusted models, accelerated aging using Grim-Age was the only biomarker associated with appetite loss (Odds Ratio = 1.21, 95% Confidence Interval: 1.03, 1.43). When stratified by age (≤ 65 years vs. > 65 years) and sex, this association remained significant only in individuals over 65 years and men. Future research is needed to explore the potential mechanisms involved, as well as how other biological drivers of aging (e.g., cell senescence, deregulated nutrient sensing) relate to appetite loss.

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Fichiers liés : A Turesson et al. GeroScience 2025.pdf

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• Type de publi. : Article dans une revue
• Date de publi. : 08/05/2025
• Auteurs : Pierre DanneelsAdrien LemaignenAurélien Lorleac’hJean-Philippe TalarminRodolphe BuzeléVincent Dubée
• Organismes : Centre Hospitalier Universitaire d'Angers Groupe d'Epidémiologie et Recherche en Infectiologie Clinique du Centre et de l'Ouest [Brest] Centre Hospitalier Régional Universitaire de Tours Groupe d'Epidémiologie et Recherche en Infectiologie Clinique du Centre et de l'Ouest [Brest] Groupe Hospitalier Bretagne Sud Groupe d'Epidémiologie et Recherche en Infectiologie Clinique du Centre et de l'Ouest [Brest] Centre Hospitalier Intercommunal de Cornouaille Groupe d'Epidémiologie et Recherche en Infectiologie Clinique du Centre et de l'Ouest [Brest] Centre hospitalier Saint-Brieuc Paimpol Tréguier Groupe d'Epidémiologie et Recherche en Infectiologie Clinique du Centre et de l'Ouest [Brest] Centre Hospitalier Universitaire d'Angers Immunology and New Concepts in ImmunoTherapy Groupe d'Epidémiologie et Recherche en Infectiologie Clinique du Centre et de l'Ouest [Brest]
• Publié dans Journal of Antimicrobial Chemotherapy le 31/10/2020

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Résumé : No abstract available

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Fichiers liés : dkaf138.pdf

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• Type de publi. : Communication dans un congrès
• Date de publi. : 07/05/2025
• Auteurs : Adeline FauMina GhobrialPhilippe SeitierPierre LagarrigueMichel GalaupAlain DaidiéPatrick Gilles
• Organismes : Institut Clément Ader Institut Clément Ader Institut national universitaire Champollion Institut Clément Ader Institut national universitaire Champollion Institut Clément Ader Institut national universitaire Champollion Education, Formation, Travail, Savoirs Institut Clément Ader Institut Clément Ader

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Résumé : Modern production rates and the increasing complexity of mechanical systems require efficient and effective manufacturing and assembly processes. The transition to Industry 4.0, supported by the deployment of innovative tools such as Augmented Reality (AR), equips the industry to tackle future challenges. Among critical processes, the assembly and tightening of bolted joints stand out due to their significant safety and economic implications across various industrial sectors. This study proposes an innovative tightening method designed to enhance the reliability of bolted assembly tightening through the use of Augmented Reality and connected tools. A 6-Degrees-of-Freedom (6-DoF) tracked connected torque wrench assists the operator during tightening, ensuring each screw is tightened to the correct torque. The effectiveness of this method is compared with the conventional tightening method using paper instructions. Participants in the study carried out tightening sequences on two simple parts with multiple screws. The study evaluates the impact of the proposed method on task performance and its acceptability to operators. The tracked connected torque wrench provides considerable assistance to the operators, including wrench control and automatic generation of tightening reports. The results suggest that the AR-based method has the potential to ensure reliable torque tightening of bolted joints.

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Fichiers liés : version_deposee.pdf

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• Type de publi. : Article dans une revue
• Date de publi. : 06/05/2025
• Auteurs : Adrien VigneronLilian CloarecCéline Brochier-ArmanetJean Pierre FlandroisMarc TroussellierCécile BernardHélène AgoguéPhilippe OgerMylène Hugoni
• Organismes : Microbiologie, adaptation et pathogénie Microbiologie, adaptation et pathogénie Microbiologie des Environnements Extrêmes = Microbiology of Extreme Environments Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 MARine Biodiversity Exploitation and Conservation - MARBEC Molécules de Communication et Adaptation des Micro-organismes LIttoral ENvironnement et Sociétés Microbiologie des Environnements Extrêmes = Microbiology of Extreme Environments Microbiologie, adaptation et pathogénie Microbiologie, adaptation et pathogénie Institut universitaire de France Microbiologie des Environnements Extrêmes = Microbiology of Extreme Environments
• Publié dans Environmental Microbiome le 28/05/2020

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Résumé : Abstract Background Extreme environments are useful systems to investigate limits of life, microbial biogeography and ecology, and the adaptation and evolution of microbial lineages. Many novel microbial lineages have been discovered in extreme environments, especially from the Planctomycetota–Verrucomicrobiota–Chlamydiota (PVC) superphyla. However, their evolutionary history and roles in ecosystem functioning and microbiome assemblage are poorly understood. Results Applying a genome-centric approach on an 8-year metagenomic timeseries produced from the hypersaline and hyperalkaline waters of Lake Dziani Dzaha (Mayotte), we recovered 5 novel PVC extremophilic candidate lineages from the biosphere of the lake. Sibling to Elusimicrobia and Omnitrophota, these lineages represented novel halophilic clades, with global distributions bounded to soda lakes and hypersaline hydrosystems. Genome mining of these newly defined clades revealed contrasted, but ecologically relevant, catabolic capabilities involved in the carbon, hydrogen and iron/electron cycles of the Dziani Dzaha ecosystem. This also includes extracellular electron transfer for two of them, suggesting metal reduction or potential electron exchanges with other members of the lake community. By contrast, a putative extracellular giant protein with multiple carbohydrate binding domains and toxin-like structures, as observed in virulence factors, was identified in the genome of another of these clades, suggesting predatory capabilities. Conclusions Our results provided genomic evidences for original metabolism in novel extremophile lineages of the PVC superphyla, revealing unforeseen implications for members of this widespread and diverse bacterial radiation in aquatic saline ecosystems. Finally, monitoring the in-situ distribution of these lineages through the timeseries reveals the drastic effects of environmental perturbations on extreme ecosystem biodiversity.

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Fichiers liés : s40793-025-00699-1.pdf

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• Type de publi. : Article dans une revue
• Date de publi. : 06/05/2025
• Auteurs : Rémi-Vinh CoudertJean-Philippe CharrierFrédéric JauffritJean-Pierre FlandroisCeline Brochier-Armanet
• Organismes : Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 BIOMERIEUX [Lyon, France] Bioinformatique, phylogénie et génomique évolutive [LBBE] BIOMERIEUX [Lyon, France] Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 Laboratoire de Biométrie et Biologie Evolutive - UMR 5558
• Publié dans BMC Bioinformatics le 01/11/2020

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Résumé : Abstract Background Genome sequence databases are growing exponentially, but with high redundancy and uneven data quality. For these reasons, selecting representative subsets of genomes is an essential step for almost all studies. However, most current sampling approaches are biased and unable to process large datasets in a reasonable time. Methods Here we present MPS-Sampling (Multiple-Protein Similarity-based Sampling), a fast, scalable, and efficient method for selecting reliable and representative samples of genomes from very large datasets. Using families of homologous proteins as input, MPS-Sampling delineates homogeneous groups of genomes through two successive clustering steps. Representative genomes are then selected within these groups according to predefined or user-defined priority criteria. Results MPS-Sampling was applied to a dataset of 48 ribosomal protein families from 178,203 bacterial genomes to generate representative genome sets of various size, corresponding to a sampling of 32.17% down to 0.3% of the complete dataset. An in-depth analysis shows that the selected genomes are both taxonomically and phylogenetically representative of the complete dataset, demonstrating the relevance of the approach. Conclusion MPS-Sampling provides an efficient, fast and scalable way to sample large collections of genomes in an acceptable computational time. MPS-Sampling does not rely on taxonomic information and does not require the inference of phylogenetic trees, thus avoiding the biases inherent in these approaches. As such, MPS-Sampling meets the needs of a growing number of users.

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• Type de publi. : Article dans une revue
• Date de publi. : 06/05/2025
• Auteurs : Yves ChalandonRaynier DevillierAriane BoumendilStéphanie NguyenClaude-Eric BulaboisPatrice CeballosEolia BrissotMarie-Thérèse RubioHélène Labussière-WalletJohan MaertensPatrice ChevallierNatacha MaillardXavier PoiréCristina Castilla-LlorenteYves BeguinJérôme CornillonSébastien MauryTony MarchandEtienne DaguindauJacques-Olivier BayPascal TurlureMagalie JorisAnne-Lise MenardKarin BilgerGaelle GuillermSylvie FrançoisAli BazarbachiSylvain ChantepiePhilippe LewalleAmbroise MarçaisMichael LoschiMalek BenakliPaul ChauvetEdouard ForcadeAnne HuynhMarie RobinStavroula Masouridi-Levrat
• Organismes : Hôpitaux Universitaires de Genève = University Hospital of Geneva [Genève] Centre de Recherche en Cancérologie de Marseille Société Francophone de Greffe de Moëlle et de Thérapie Cellulaire = French-speaking Society for Bone Marrow Transplantation and Cell Therapy CHU Pitié-Salpêtrière [AP-HP] CHU de Grenoble-Alpes - Centre Hospitalier Universitaire CHU Grenoble Hôpital Saint Eloi [CHU Montpellier] Centre de Recherche Saint-Antoine Service d'Hématologie [CHRU Nancy] Centre Hospitalier Lyon Sud [CHU - HCL] Universitair Ziekenhuis Leuven = University Hospital of Leuven = Hopital universitaire de Louvain Centre Hospitalier Universitaire de Nantes = Nantes University Hospital Centre hospitalier universitaire de Poitiers = Poitiers University Hospital Cliniques universitaires St Luc [Bruxelles] Département d'hématologie [Gustave Roussy] Centre Hospitalier Universitaire de Liège Institut de Cancérologie et d'Hématologie Universitaire de Saint-Étienne [CHU Saint-Etienne] CHU Henri Mondor [Créteil] Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou] Microenvironment and B-cells: Immunopathology, Cell Differentiation, and Cancer Centre Hospitalier Régional Universitaire de Besançon Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) Service Hématologie Biologique [CHU Clermont-Ferrand] Service d'Hématologie clinique et thérapie cellulaire [CHU Limoges] CHU Amiens-Picardie Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen Laboratoire de Génétique Moléculaire [CHRU Strasbourg] Centre Hospitalier Régional Universitaire de Brest Centre Hospitalier Universitaire d'Angers American University of Beirut CHU Caen Normandie – Centre Hospitalier Universitaire de Caen Normandie Hôpital Universitaire de Bruxelles M3C-Necker, Hôpital universitaire Necker-Enfants malades, Université de Paris, Paris, France Centre Hospitalier Universitaire de Nice Centre Pierre et Marie Curie [Alger, Algeria] Pole Cardio-vasculaire et pulmonaire [CHU Lille] Centre Hospitalier Universitaire de Bordeaux Service Hématologie - IUCT-Oncopole [CHU Toulouse] Hopital Saint-Louis [AP-HP] Hôpitaux Universitaires de Genève = University Hospital of Geneva [Genève]
• Publié dans American Journal of Hematology le 26/10/2020

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Résumé : ABSTRACT There are very limited data regarding the outcomes of elderly patients with acute lymphoblastic leukemia (ALL) who undergo allogeneic hematopoietic stem cell transplantation (alloHSCT). A total of 316 ALL patients aged ≥ 60 years who underwent alloHSCT between 2010 to 2022 were identified in the SFGM‐TC registry. The primary objective was to evaluate progression‐free survival (PFS), non‐relapse mortality (NRM), relapse incidence (RI), and graft‐versus‐host disease (GvHD)‐free relapse‐free survival (GRFS), as well as their risk factors. The median age was 63.8 years (range 60–75.8), 49.8% of patients had Philadelphia‐positive B‐ALL (Ph + ALL), and 70.9% were in first complete remission (CR1) at transplantation. The donor was an unrelated donor in 52.1%, a matched related donor (MRD) in 26.3%, and a haplo‐identical donor in 17.7%. Reduced‐intensity conditioning (RIC) was administered to 64.6% of patients, while total body irradiation (TBI) was used in 35.8%. The 3‐year overall survival (OS) was 46% (95% CI 40%–53%). The 3‐year PFS, NRM, RI, and GRFS were 41% (95% CI 35%–48%), 23% (95% CI 18%–28%), 36% (95% CI 31%–42%), and 30% (95% CI 25%–37%), respectively. Multivariable analyses confirmed poorer OS and PFS in patients with advanced disease, with an HR of 1.79 (95% CI 1.22–2.64), p = 0.0032. Additionally, the ALL subtype significantly impacted outcomes, with an HR of 1.99 (95% CI 1.42–2.79) for non‐Ph + ALL. This study suggests that alloHSCT is a viable option for elderly ALL patients, as age itself did not impact outcomes. However, advanced disease and non‐Ph + ALL were associated with significantly worse survival.

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Fichiers liés : Chalandon - 2025 - Allogeneic Hematopoietic Stem Cell Transplantation for Elderly Acute Lymphoblastic Leukemia Patients _SFGM-TC elderly ALL alloHSCT paper revision 020325 unmarked version.pdf

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• Type de publi. : Communication dans un congrès
• Date de publi. : 05/05/2025
• Auteurs : Daniel ThirionJean-Marc DaveauV. EgloffDavid HelyVincent BeroullePhilippe Roche
• Organismes : STMicroelectronics [Crolles] Laboratoire de Conception et d'Intégration des Systèmes STMicroelectronics [Crolles] Laboratoire de Conception et d'Intégration des Systèmes Laboratoire de Conception et d'Intégration des Systèmes Conception et Test de SYStèmes embarqués Laboratoire de Conception et d'Intégration des Systèmes Conception et Test de SYStèmes embarqués STMicroelectronics [Crolles]

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Résumé : With the increase in cybersecurity requirements and the growing connectivity of critical systems like vehicles and satellites, implementing both functional safety and hardware security is crucial. Although safety and security methods are well studied, combined analysis at the RTL or Netlist level remains under-explored. This paper provides an initial analysis of multiple AES designs—one unprotected, one with a safety-oriented countermeasure (Lockstep), and one with security-oriented countermeasures (Parity-Predictor)—using both simulation and formal methods. We identify the challenges and opportunities for enhancing combined safety and security assessments. Additionally, we evaluate the AES designs against ISO 26262 safety metrics and analyze their resilience to laser attacks, offering insight into their security robustness.

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• Type de publi. : Article dans une revue
• Date de publi. : 01/05/2025
• Auteurs : Chloé GrolleauMaxime BattistellaEve ZakineThomas PoisotFlorence CordolianiThibault MahevasMarie JachietAdèle de MassonArsène MekinianBenjamin TerrierSophie Georgin LaviallePierre FenauxLionel AdèsLin-Pierre ZhaoKevin SerrorMatthieu DuchmannEmmanuelle ClappierRachel OnifarasoaniainaHelene Le BuanecPhilippe MogueletJean-David BouazizFrancois Chasset
• Organismes : Immunologie humaine, physiopathologie & immunothérapie Service de Dermatologie [AP-HP Hôpital Saint-Louis] Service de pathologie [Saint-Louis] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Immunologie humaine, physiopathologie & immunothérapie Service de Dermatologie [AP-HP Hôpital Saint-Louis] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Service de Dermatologie [AP-HP Hôpital Saint-Louis] CHU Saint-Antoine [AP-HP] Université Paris Cité Centre national de référence pour les maladies auto-immunes systémiques rares [CHU Cochin] Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] Maladies génétiques d'expression pédiatrique CHU Tenon [AP-HP] Service d'Hématologie Seniors - Hôpital Saint-Louis Service d'Hématologie Seniors - Hôpital Saint-Louis Service d'Hématologie Seniors - Hôpital Saint-Louis Hopital Saint-Louis [AP-HP] Génomes, biologie cellulaire et thérapeutiques Service Hématologie Transplantation [Hôpital Saint Louis, AP-HP] Génomes, biologie cellulaire et thérapeutiques Service Hématologie Transplantation [Hôpital Saint Louis, AP-HP] Institut Cochin Immunologie humaine, physiopathologie & immunothérapie CHU Tenon [AP-HP] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Immunologie humaine, physiopathologie & immunothérapie CHU Tenon [AP-HP] Centre d'Immunologie et des Maladies Infectieuses
• Publié dans JAMA Dermatology le 28/10/2020

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Résumé : Importance VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease caused by UBA1 somatic variants in hematopoietic progenitor cells, mostly involving adult men. It is associated with inflammatory-related symptoms, frequently involving the skin and hematological disorders. Recently described myelodysplasia cutis (MDS-cutis) is a cutaneous manifestation of myelodysplasia in which clonal myelodysplastic cells infiltrate the skin. In both cases, skin lesions are driven by the infiltration of clonal mutated myeloid cells and may clinically and histologically mimic Sweet syndrome (SS), a neutrophilic skin disease. Objective To decipher the underlying mechanisms driving these 3 myeloid-related skin diseases (ie, VEXAS, MDS-cutis, and SS) compared with leukemia cutis (LC), a neoplastic blastic myeloid-related skin condition, and healthy control skin samples. Design, Setting, and Participants This multicenter translational study on formaldehyde-fixed paraffin-embedded lesional skin samples of VEXAS syndrome, MDS-cutis, idiopathic SS, LC, and healthy controls using bulk RNA sequencing analyses was conducted in France. Patients included had cutaneous lesions of VEXAS syndrome, MDS-cutis, idiopathic SS, or LC. The data were analyzed from June 2023 to March 2024. Main Outcomes and Measures Differentially expressed genes between conditions were studied. These genes were used to characterize the enrichment in activated inflammatory pathways in each condition using Gene Set Enrichment Analysis and Ingenuity Pathway Analysis. Results Twenty patients with skin conditions (median [range] age, 67 [43-88] years; 10 [50%] men) were included. Six had cutaneous lesions of VEXAS syndrome, 4 had MDS-cutis, 5 had idiopathic SS, and 5 had LC. They were compared with 5 healthy control skin samples. Bulk RNA sequencing analysis reveals that MDS-cutis and VEXAS syndrome lesions display closely related transcriptomic profiles, highly imprinted by cytokine responses, interferon signatures, and activation of the apoptosis pathway. A shared inflammatory environment between MDS-cutis, VEXAS syndrome, and idiopathic SS was observed, mostly relying on a type 1 immune response led by type 1 and 2 interferons, along with the activation of tumor necrosis factor and interleukin (IL)–1β pathways. Conversely, LC showed an isolated transcriptomic profile mainly enriched in cell cycle pathways. Conclusions and Relevance The findings of this translational study highlight a common inflammatory pattern shared between VEXAS syndrome, MDS-cutis, and refractory idiopathic SS skin samples. This suggests the potential therapeutic targeting of interferon pathways in patients affected with refractory nonblastic myeloid-related skin diseases.

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• Type de publi. : Article dans une revue
• Date de publi. : 01/05/2025
• Auteurs : Chloé GrolleauMaxime BattistellaEve ZakineThomas PoisotFlorence CordolianiThibault MahevasMarie JachietAdèle de MassonArsène MekinianBenjamin TerrierSophie Georgin LaviallePierre FenauxLionel AdèsLin-Pierre ZhaoKevin SerrorMatthieu DuchmannEmmanuelle ClappierRachel OnifarasoaniainaHelene Le BuanecPhilippe MogueletJean-David BouazizFrancois Chasset
• Organismes : Service de Dermatologie [AP-HP Hôpital Saint-Louis] Immunologie humaine, physiopathologie & immunothérapie Service de pathologie [Saint-Louis] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Immunologie humaine, physiopathologie & immunothérapie Service de Dermatologie [AP-HP Hôpital Saint-Louis] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Immunologie - Immunopathologie - Immunothérapie [CHU Pitié Salpêtrière] Hôpital Cochin [AP-HP] Université Paris Descartes - Paris 5 Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] Maladies génétiques d'expression pédiatrique Service d'Hématologie Seniors - Hôpital Saint-Louis Service d'Hématologie Seniors - Hôpital Saint-Louis Service d'Hématologie Seniors - Hôpital Saint-Louis Hopital Saint-Louis [AP-HP] Service Hématologie Transplantation [Hôpital Saint Louis, AP-HP] Génomes, biologie cellulaire et thérapeutiques Service Hématologie Transplantation [Hôpital Saint Louis, AP-HP] Génomes, biologie cellulaire et thérapeutiques Institut Cochin Immunologie humaine, physiopathologie & immunothérapie CHU Tenon [AP-HP] Service de Dermatologie [AP-HP Hôpital Saint-Louis] Immunologie humaine, physiopathologie & immunothérapie CHU Tenon [AP-HP] Centre d'Immunologie et des Maladies Infectieuses
• Publié dans JAMA Dermatology le 28/10/2020

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Résumé : Importance VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease caused by UBA1 somatic variants in hematopoietic progenitor cells, mostly involving adult men. It is associated with inflammatory-related symptoms, frequently involving the skin and hematological disorders. Recently described myelodysplasia cutis (MDS-cutis) is a cutaneous manifestation of myelodysplasia in which clonal myelodysplastic cells infiltrate the skin. In both cases, skin lesions are driven by the infiltration of clonal mutated myeloid cells and may clinically and histologically mimic Sweet syndrome (SS), a neutrophilic skin disease. Objective To decipher the underlying mechanisms driving these 3 myeloid-related skin diseases (ie, VEXAS, MDS-cutis, and SS) compared with leukemia cutis (LC), a neoplastic blastic myeloid-related skin condition, and healthy control skin samples. Design, Setting, and Participants This multicenter translational study on formaldehyde-fixed paraffin-embedded lesional skin samples of VEXAS syndrome, MDS-cutis, idiopathic SS, LC, and healthy controls using bulk RNA sequencing analyses was conducted in France. Patients included had cutaneous lesions of VEXAS syndrome, MDS-cutis, idiopathic SS, or LC. The data were analyzed from June 2023 to March 2024. Main Outcomes and Measures Differentially expressed genes between conditions were studied. These genes were used to characterize the enrichment in activated inflammatory pathways in each condition using Gene Set Enrichment Analysis and Ingenuity Pathway Analysis. Results Twenty patients with skin conditions (median [range] age, 67 [43-88] years; 10 [50%] men) were included. Six had cutaneous lesions of VEXAS syndrome, 4 had MDS-cutis, 5 had idiopathic SS, and 5 had LC. They were compared with 5 healthy control skin samples. Bulk RNA sequencing analysis reveals that MDS-cutis and VEXAS syndrome lesions display closely related transcriptomic profiles, highly imprinted by cytokine responses, interferon signatures, and activation of the apoptosis pathway. A shared inflammatory environment between MDS-cutis, VEXAS syndrome, and idiopathic SS was observed, mostly relying on a type 1 immune response led by type 1 and 2 interferons, along with the activation of tumor necrosis factor and interleukin (IL)–1β pathways. Conversely, LC showed an isolated transcriptomic profile mainly enriched in cell cycle pathways. Conclusions and Relevance The findings of this translational study highlight a common inflammatory pattern shared between VEXAS syndrome, MDS-cutis, and refractory idiopathic SS skin samples. This suggests the potential therapeutic targeting of interferon pathways in patients affected with refractory nonblastic myeloid-related skin diseases.

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• Type de publi. : Article dans une revue
• Date de publi. : 01/05/2025
• Auteurs : Sylvain DiamantisT. FraisseEric BonnetVirginie PrendkiClaire AndréjakMarie-Anne AuquierCarla Garcia CarmonaEric FarfourPierre FillâtreSébastien GallienGaëtan GavazziAnne-Laure HouistJulie LourtetMathilde PerrinEmilie PietStanislas RebaudetYves RollandJ.P. LanoixAlain Putot
• Organismes : Centre Hospitalier de Melun Centre Hospitalier Alès-Cévennes Pôle IUCT [CHU Toulouse] Hôpitaux Universitaires de Genève = University Hospital of Geneva [Genève] Pneumologie [CHU Amiens] CHU Amiens-Picardie Centre Médical de Forcilles [Lesigny, France] Hôpital Foch [Suresnes] ESCMID [Basel] CHU Henri Mondor [Créteil] CHU de Grenoble-Alpes - Centre Hospitalier Universitaire CHU Grenoble Institut Informatique et Mathématiques Appliquées de Grenoble (IMAG) CHU Henri Mondor [Créteil] Groupe Hospitalier Paris Saint-Joseph Laboratoire Sols et Environnement Centre Hospitalier Sud Francilien - Centre Hospitalier d'Evry Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale Institut Hospitalier Universitaire HealthAge CHU Amiens-Picardie Agents infectieux, résistance et chimiothérapie - UR UPJV 4294 Université Bourgogne Europe
• Publié dans Infectious Diseases Now le 08/09/2022

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