Case Report: TRNT1 related autoinflammatory syndrome in a patient with primary ciliary dyskinesia

We report the case of a young woman with primary ciliary dyskinesia (PCD) who was also diagnosed with tRNA nucleotidyl transferase 1 (TRNT1)-related autoinflammatory syndrome, characterized by recurrent episodes of fever and arthralgia beginning at age 16. To our knowledge, this is the first documen...

Descripció completa

Dades bibliogràfiques

Autors principals:	Simona Di Gennaro, Francesca Della Casa, Angelica Petraroli, Melissa Borrelli, Maria Alessio, Francesca Orlando, Roberta Naddei
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2026-07-01
Col·lecció:	Frontiers in Immunology
Matèries:	autoinflammatory disease case report etanercept genetic disorders primary ciliary dyskinesia TRNT1 syndrome
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fimmu.2026.1778403/full
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!