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  • Immune phenotyping of Erdheim-Chester disease through mass cytometry highlights decreased proportion of non-classical monocytes and increased proportion of Th17 cells

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Immune phenotyping of Erdheim-Chester disease through mass cytometry highlights decreased proportion of non-classical monocytes and increased proportion of Th17 cells
  1. Matthias Papo1,2,
  2. Aurélien Corneau3,
  3. Fleur Cohen-Aubart1,
  4. Brice Robin3,
  5. Jean-François Emile4,
  6. Makoto Miyara1,5,
  7. Catherine Blanc3,
  8. Zahir Amoura1,
  9. Olivier Hermine2,6,
  10. Julien Haroche1,
  11. Thiago Trovati Maciel2
  1. 1 Service de Médecine Interne 2, Institut E3M, Centre National de Référence des Histiocytoses, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France
  2. 2 Laboratory of molecular mechanisms of hematologic disorders and therapeutic implications, Imagine Institute, INSERM UMR1163, Paris, France
  3. 3 INSERM UMS037 PASS, Plateforme de Cytométrie (CyPS), Sorbonne Université, INSERM UMS037 PASS, Plateforme de Cytométrie (CyPS), Paris, France
  4. 4 Pathology, EA4340-BECCOH, Versailles University & Département de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne-Billancourt, France
  5. 5 Centre d'Immunologie et des Maladies Infectieuses, Sorbonne Université, Inserm UMR-S, Centre d'Immunologie et des Maladies Infectieuses (CIMI-Paris), Assistance Publique-Hôpitaux de Paris, Groupement Hospitalier Pitié-Salpêtrière, Département d'Immunologie, Paris, France
  6. 6 AP-HP, Department of Adult Hematology, Hôpital Necker, University of Paris, Paris, France
  1. Correspondence to Mr Matthias Papo, Institut E3M, Centre National de Référence des Histiocytoses, Hôpital Pitié-Salpêtrière, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France., 75013 Paris, France; matt.papo{at}gmail.com

http://dx.doi.org/10.1136/annrheumdis-2020-217316

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    Erdheim-Chester disease (ECD) is an histiocytosis of the L-group, characterised by multiorgan infiltration of histiocytes that often carry oncogenic mutations.1 In the past few years, several studies have progressively and carefully mapped ECD genome, and several mutations have been described, most of them activating the mitogen-activated protein kinases (MAPK) pathway.1 These discoveries led to new therapies targeting BRAF or MEK in patients with ECD.2 Despite these findings, ECD pathogenesis still remains undetermined. Patients with ECD present a systemic inflammatory disease, with not only macrophages but also several other immune cells infiltrating affected tissues. A few studies have tried to explore the immune phenotype of ECD, with cytokine dosage in plasma and/or immunohistochemistry analysis, suggesting a complex network of inflammatory cytokines and chemokines.3 In order to explore the inflammatory phenotype of ECD, we realised immune phenotyping of circulating immune cells of 13 patients with ECD (details on patients’ characteristics are available in online supplementary table 1) and …

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    Footnotes

    • Handling editor Josef S Smolen

    • Contributors Study conception and design: MP, AC and TTM. Acquisition of data and experiments performance: MP, AC and BR. Analysis of data, drafting and writing of the manuscript: MP, AC, JH and TTM. All authors contributed to reviewing the manuscript and approved the final version for publication.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.