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 documented case of homozygosity for the c.1246A>G variant in the TRNT1 gene. The patient had a milder clinical phenotype than previously reported cases with the same variant in a compound heterozygous state. Etanercept administration effectively controlled autoinflammatory manifestations, consistent with prior literature, and no adverse safety events were observed, despite the elevated risk of infectious pulmonary complications due to concurrent PCD. This case underscores the importance of considering autoinflammatory disease in patients presenting with relevant clinical features, even when manifestations are mild or have a delayed onset.