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Etienne Merlin
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Journal Articles

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease

Benjamin Fournier, Léa Poirier, Vincent Abramowski, Etienne Merlin, Hélène Deutsch, Paul Bastard, Isabelle Callebaut, Capucine Picard, Jérémie Rosain, Sébastien Küry, Stéphane Bézieau, Monique Fabre, Martin Castelle, Bénédicte Neven, Despina Moshous, Jean-Pierre de Villartay, Frédéric Ebstein
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250096.
https://doi.org/10.70962/jhi.20250096
Published: 18 November 2025
View article titled, Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease
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Includes: Supplementary data
Journal Articles

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation

In Special Collection:
Innate Immune Signaling: From Host Defense to Disease Pathogenesis , 2024: The Year in Experimental Medicine
Camille Cosson, Romane Riou, Danish Patoli, Tingting Niu, Amaury Rey, Marine Groslambert, Charlotte De Rosny, Elodie Chatre, Omran Allatif, Thomas Henry, Fabienne Venet, Florian Milhavet, Guilaine Boursier, Alexandre Belot, Yvan Jamilloux, Etienne Merlin, Agnès Duquesne, Gilles Grateau, Léa Savey, Alexandre Thibault Jacques Maria, Anne Pagnier, Solène Poutrel, Olivier Lambotte, Coralie Mallebranche, Samuel Ardois, Olivier Richer, Irène Lemelle, Frédéric Rieux-Laucat, Brigitte Bader-Meunier, Zahir Amoura, Isabelle Melki, Laurence Cuisset, Isabelle Touitou, Matthias Geyer, Sophie Georgin-Lavialle, Bénédicte F. Py
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (5): e20231200.
https://doi.org/10.1084/jem.20231200
Published: 26 March 2024
View article titled, Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation
Open the PDF for Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation in another window
Includes: Supplementary data