Clinical, laboratory and genetic characteristics of VEXAS syndrome: a study on behalf of GESMD.

doi:10.3389/fimmu.2026.1743509

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Clinical, laboratory and genetic characteristics of VEXAS syndrome: a study on behalf of GESMD.

Frontiers in immunology - 1 Jan 2026

Fonseca-Santos Marta, Puertas Borja, Arzuaga-Méndez Javier, Ancin-Arteaga Idoya, Castaño-Diez Sandra, De Miguel Carlos, Canet-Maldonado Marta, Bosch-Schips Marc, Palomo-Rumschisky Pablo, Blanco María Laura, Gil-Alós Daniel, Moreno-Igoa María, G Santa-Catalina Pedro, Azibeiro Raúl, Puerta Carlos, Mesa-Tudela Alba, López-Cadenas Felix, Tuset Esperanza, Fiallo-Suarez Dolly Viviana, Ramos Fernando, Gimenez Maria Teresa, Peri Valeria, Mayani Karan, Montañes-García M Ángeles, Villalba Ana, Rivas Jesus María Hernandez, Díaz-Beyá Marina, Díez-Campelo María

Abstract excerpt

VEXAS syndrome ('Vacuoles', 'E1 enzyme', 'X-linked', 'Autoinflammatory' and 'Somatic') is a rare autoinflammatory disorder caused by somatic mutations in the UBA1 (ubiquitin-like modifier-activating enzyme 1) gene whose treatment and prognosis remain poorly understood. The GESMD group (Grupo Español de Síndromes Mielodisplásicos) conducted a retrospective multicenter study of 40 male patients (median age 74...

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Identifiers

PMID: 42136657
DOI: 10.3389/fimmu.2026.1743509
PMCID: PMC13168092

Genes

UBA1
IL6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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