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...

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Hlavní autoři:	Simona Di Gennaro, Francesca Della Casa, Angelica Petraroli, Melissa Borrelli, Maria Alessio, Francesca Orlando, Roberta Naddei
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-07-01
Edice:	Frontiers in Immunology
Témata:	autoinflammatory disease case report etanercept genetic disorders primary ciliary dyskinesia TRNT1 syndrome
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fimmu.2026.1778403/full
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