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

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

  • By

  • Simona Di Gennaro

  • Francesca Della Casa

  • Angelica Petraroli

  • Melissa Borrelli

  • Maria Alessio

  • Francesca Orlando

  • Roberta Naddei

  • July 1, 2026

  • 0 min

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  • 1

    A 19-year-old woman with primary ciliary dyskinesia was diagnosed with TRNT1-related autoinflammatory syndrome, marked by recurrent fever and arthralgia.

  • 2

    The patient exhibited homozygosity for the c.1246A>G variant in the TRNT1 gene, a first documented case with this specific genetic mutation.

  • 3

    Etanercept treatment effectively controlled the patient's autoinflammatory symptoms without adverse safety events, despite her underlying PCD.

  • 4

    Laboratory tests revealed increased inflammatory markers and normocytic anemia, but normal immunological responses and no significant hematological abnormalities.

  • 5

    This case highlights the need to consider autoinflammatory diseases in patients with mild or delayed onset symptoms, even in the context of other conditions.

Original Source(s)

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

  • by Simona Di Gennaro, Francesca Della Casa, Angelica Petraroli, Melissa Borrelli, Maria Alessio, Francesca Orlando, Roberta Naddei

  • July 1, 2026

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