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Journal Articles

SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases

Pauline Bronnec, Sarah Dalmon, Chloe Briand, Omran Allatif, Martin Broly, Melissa Marcotte, Gianluca Lombardi, Kevin Barthes, Nora Martel, Sandrine Hughes, Benjamin Gillet, Florian Milhavet, Aysima Atilgan, Hervé Bachelez, Serena Palmeri, Ignazia Prigione, Marine Madrange, Léa Savey, Michel Moutschen, Isabelle Jeru, Majdouline El Moussaoui, Alexandre Belot, Emilie Sbidian, Alessandra Carbone, Yvan Jamilloux, Marco Gattorno, Asma Smahi, Sophie Georgin-Lavialle, Guilaine Boursier, Flora Magnotti, Thomas Henry
Journal: Journal of Experimental Medicine
J Exp Med (2025) 223 (2): e20251065.
https://doi.org/10.1084/jem.20251065
Published: 03 December 2025
View article titled, SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases
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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