Case Report: TRNT1 related autoinflammatory syndrome in a patient with primary ciliary dyskinesia - Report - 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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Clinical Report: Autoinflammatory Syndrome Associated with TRNT1 in a Patient Diagnosed with Primary Ciliary Dyskinesia

Background

Autoinflammatory diseases are characterized by dysregulation of the innate immune system, leading to recurrent systemic inflammation. The genetic basis of these diseases often involves single-gene mutations, such as those in the TRNT1 gene, which can result in a spectrum of clinical phenotypes.

Data Highlights

No numerical or trial data presented in the article.

Key Findings

  • The patient presented with a homozygous mutation in the TRNT1 gene, specifically c.1246A>G.
  • She exhibited a milder clinical phenotype compared to previously reported cases with the same variant.
  • Recurrent episodes of fever and arthralgia began at age 16, with significant inflammatory markers observed.
  • Etanercept was effective in controlling the autoinflammatory manifestations without adverse safety events.

Clinical Implications

Healthcare professionals should consider the possibility of autoinflammatory syndromes in patients with recurrent fever and arthralgia, particularly in the context of genetic mutations.

Conclusion

This case highlights the clinical presentation of autoinflammatory syndromes in patients with primary ciliary dyskinesia.

Related Resources & Content

  1. Open Forum Infectious Diseases, 2023 -- A Family's Battle Against Tropheryma whipplei: Insights from a Case Series
  2. Frontiers in Immunology -- Autoimmune nodopathy associated with Sjögren’s disease and nephrotic syndrome: a case report and literature review
  3. Infection -- A Case Study of a 38-Year-Old Female with Necrotizing Cervical Lymphadenitis Induced by Histoplasma capsulatum
  4. Clinical Rheumatology -- Cardiac Manifestations in Dermatomyositis Associated with Anti-MDA5 Antibodies: A Review of Case Studies
  5. Key updates in the 2025 ERS/ATS guideline for the diagnosis of primary ciliary dyskinesia, PubMed
  6. IUIS 2024 Update -- Inborn Errors of Immunity
  7. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes, New England Journal of Medicine
  8. [Key updates in the 2025 ERS/ATS guideline for the diagnosis of primary ciliary dyskinesia] - PubMed
  9. https://wp-iuis.s3.eu-west-1.amazonaws.com/app/uploads/2025/01/08170257/IEI-Final-Update-of-2024-Report-Jan-2025.pdf
  10. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes | New England Journal of Medicine

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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