VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation

Autor: Olivier Kosmider, Céline Possémé, Marie Templé, Aurélien Corneau, Francesco Carbone, Eugénie Duroyon, Paul Breillat, Twinu-Wilson Chirayath, Bénédicte Oules, Pierre Sohier, Marine Luka, Camille Gobeaux, Estibaliz Lazaro, Roderau Outh, Guillaume Le Guenno, François Lifermann, Marie Berleur, Melchior Le Mene, Chloé Friedrich, Cédric Lenormand, Thierry Weitten, Vivien Guillotin, Barbara Burroni, Jeremy Boussier, Lise Willems, Selim Aractingi, Léa Dionet, Pierre-Louis Tharaux, Béatrice Vergier, Pierre Raynaud, Hang-Korng Ea, Mickael Ménager, Darragh Duffy, Benjamin Terrier

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)

Abstract Acquired mutations in the UBA1 gene were recently identified in patients with severe adult-onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). However, the precise physiological and clini

Externí odkaz: https://doaj.org/article/1c0de64cb1ab4953a41137e4248834bd

Early IFNβ secretion determines variable downstream IL-12p70 responses upon TLR4 activation

Autor: Celine Posseme, Alba Llibre, Bruno Charbit, Vincent Bondet, Vincent Rouilly, Violaine Saint-André, Jeremy Boussier, Jacob Bergstedt, Nikaïa Smith, Liam Townsend, Jamie A. Sugrue, Clíona Ní Cheallaigh, Niall Conlon, Maxime Rotival, Michael S. Kobor, Estelle Mottez, Stanislas Pol, Etienne Patin, Matthew L. Albert, Lluis Quintana-Murci, Darragh Duffy, Laurent Abel, Andres Alcover, Hugues Aschard, Philippe Bousso, Nollaig Bourke, Petter Brodin, Pierre Bruhns, Nadine Cerf-Bensussan, Ana Cumano, Caroline Demangel, null Christophe d’Enfert, Ludovic Deriano, Marie-Agnès Dillies, James Di Santo, Françoise Dromer, Gérard Eberl, Jost Enninga, Jacques Fellay, Ivo Gomperts-Boneca, Milena Hasan, Magnus Fontes, Gunilla Karlsson Hedestam, Serge Hercberg, Molly A. Ingersoll, Rose Anne Kenny, Olivier Lantz, Mickael Ménager, Frédérique Michel, Hugo Mouquet, Cliona O'Farrelly, Sandra Pellegrini, Antonio Rausell, Frédéric Rieux-Laucat, Lars Rogge, Anavaj Sakuntabhai, Olivier Schwartz, Benno Schwikowski, Spencer Shorte, Frédéric Tangy, Antoine Toubert, Mathilde Touvier, Marie-Noëlle Ungeheuer, Christophe Zimmer

Publikováno v: Cell Reports
Cell Reports, 2022, 39 (13), pp.110989. ⟨10.1016/j.celrep.2022.110989⟩
Cell Reports, 2022, ⟨10.1016/j.celrep.2022.110989⟩

International audience; The interleukin-12 (IL-12) family comprises the only heterodimeric cytokines mediating diverse functional effects. We previously reported a striking bimodal IL-12p70 response to lipopolysaccharide (LPS) stimulation in healthy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b042088ef7d350f52ea9e615b9035d6f
https://pubmed.ncbi.nlm.nih.gov/35767946

Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

Autor: Katariina Hannula-Jouppi, Outi Elomaa, Svetlana Vakkilainen, Annamari Ranki, Laura Puhakka, Darragh Duffy, Celine Posseme, Kaarina Heiskanen, Maarit Palomäki, Harri Saxen, Timo Väisänen, Mikko Seppänen, Mikko Muona, Paula Klemetti

Publikováno v: Acta Dermato-Venereologica
Acta Dermato-Venereologica, Society for Publication of Acta Dermato-Venereologica, 2019, ⟨10.2340/00015555-3203⟩
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 789-796 (2019)
Acta Dermato-Venereologica, 2019, ⟨10.2340/00015555-3203⟩

International audience; Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Sever

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f411008600d898a46d430b24664ac8b3
https://hal-pasteur.archives-ouvertes.fr/pasteur-02173489/document

Tuberculosis alters immune-metabolic pathways resulting in perturbed IL-1 responses

Autor: Alba Llibre, Nikaïa Smith, Vincent Rouilly, Munyaradzi Musvosvi, Elisa Nemes, Céline Posseme, Simbarashe Mabwe, Bruno Charbit, Stanley Kimbung Mbandi, Elizabeth Filander, Hadn Africa, Violaine Saint-André, Vincent Bondet, Pierre Bost, Humphrey Mulenga, Nicole Bilek, Matthew L. Albert, Thomas J. Scriba, Darragh Duffy

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

Tuberculosis (TB) remains a major public health problem and we lack a comprehensive understanding of how Mycobacterium tuberculosis (M. tb) infection impacts host immune responses. We compared the induced immune response to TB antigen, BCG and IL-1β

Externí odkaz: https://doaj.org/article/6065dbee52904e8581bc7ef2952a2c96