Article
Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.
Journal of clinical immunology - 30 Sept 2025
Bonet Nuria, Mascaro Jose M, Hurtado-Navarro Laura, Angosto-Bazarra Diego, Callejas-Rubio Jose Luis, Clemente Daniel, Souto Alejandro, Lima Olalla, Palmou-Fontana Natalia, Baselga Eulalia, Jiménez-Treviño Santiago, Remesal Agustin, Andreu-Barasoain Marta, Fernandez-Dominguez Luis, Riera-Monroig Josep, Aparicio Maria, Garcia-Herrero Juan, Pesqué David, Sanchez-Calvin Maria Teresa, Lezana-Rosales Jose Miguel, Correyero-Plaza Maria, Garcia-Villalba Julio, Bolaño Victor, Peiro Sara, Diaz Mar, Vlagea Alexandru, Lorca Daniel, Fabregat Virginia, Anton Maria Carmen, Plaza Susana, Gonzalez-Granado Luis Ignacio, Postigo Concepción, de Morales Jose Maria Garcia-Ruiz, de la Fuente Enrique Gómez, Iglesias Estibaliz, Gomez-Roman Javier, Vázquez-Triñanes Caritina, Lopez-Robledillo Juan Carlos, Ortego-Centeno Norberto, Giménez-Arnau Ana María, Campistol Josep M, Laayouni Hafid, de Landazuri Iñaki Ortiz, Yagüe Jordi, Gonzalez-Roca Eva, Mensa-Vilaro Anna, Fornas Oscar, Ramos Eduardo, Pelegrin Pablo, Casals Ferran, Arostegui Juan I
Abstract excerpt
NLRP3 mosaicism is a well-established mechanism causing the monogenic autoinflammatory disease named cryopyrin-associated periodic syndromes (CAPS). The number of reported patients with NLRP3 mosaicism is small, and the knowledge about the long-term disease behavior is limited. Herein we assembled the largest cohort of individuals with NLRP3 mosaicism reported to date to obtain additional evidence that...
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