To report a case of a young woman with primary ciliary dyskinesia (PCD) diagnosed with TRNT1-related autoinflammatory syndrome.
Approach:
Patient Case Description: A 19-year-old woman with PCD and recurrent fever and arthralgia was evaluated. Genetic testing revealed a homozygous mutation in the TRNT1 gene.
Treatment: Etanercept was administered to control autoinflammatory manifestations, starting with a reduced dosing schedule due to the risk of respiratory complications.
Key Findings:
The patient exhibited a milder clinical phenotype than previously reported cases with the same TRNT1 variant in a compound heterozygous state.
Etanercept administration effectively controlled the autoinflammatory manifestations, consistent with prior literature, and no adverse safety events were observed.
Interpretation:
This case presents a unique instance of TRNT1-related autoinflammatory syndrome in a patient with PCD, characterized by recurrent fever and arthralgia.
Limitations:
Only one case is reported, limiting generalizability.
Long-term effects of Etanercept in this context are not fully established.
Conclusion:
This case illustrates the phenotypic variability of TRNT1-related autoinflammatory syndrome.
Approval expands risankizumab use to pediatric plaque psoriasis and psoriatic arthritis and includes a new 55-mg prefilled syringe for weight-based dosing in patients weighing less than 40 kg.
