VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

doi:10.1093/rheumatology/keaf094

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VEXAS syndrome through a rheumatologist's lens: insights from a Spanish national cohort.

Rheumatology (Oxford, England) - 1 Jun 2025

García-Escudero Paula, López-Gómez Marta, López Berta Magallares, Dorta Alicia García, Frade-Sosa Beatriz, Lizarzaburu Meritxell Sallés, Rúa-Figueroa Íñigo, Fiallo Dolly Viviana, Toyos Sáenz de Miera Francisco Javier, Melero-Gonzalez Rafael Benito, Dios Santos Diego, Miranda José Alberto, Belando Clara García, Boselli Giuliano, Boteanu Alina Lucica, Villalobos Lourdes, Selaya Cristina Corrales, Sieiro Santos Cristiana, Álvarez Elvira Díez, Font Judit, Alonso Elena Riera, Araguás Ernesto Trallero, Merayo Eugenia Enríquez, Rodriguez-Laguna María, Monjo Irene, Gómez Ignacio Vázquez, Vela-Casasempere Paloma, Merino Carolina, Martínez Marta Ibáñez, Beriain José Ángel Hernández, Ruiz-Román Alberto, Calvo-Alén Jaime

Abstract excerpt

OBJECTIVES: To describe the clinical spectrum of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome in patients managed by rheumatology units and analyse genotype-phenotype correlations. METHODS: A multicentre, cross-sectional, retrospective study was conducted across 126 Spanish hospitals. Patients with VEXAS syndrome diagnosed between December 2020 and January 2024 were included....

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PMID: 39937690
DOI: 10.1093/rheumatology/keaf094

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