Type I interferon pathway activation in COPA syndrome

Stefano Volpi, Jessica Tsui, Marcello Mariani, Claudia Pastorino, Roberta Caorsi, Oliviero Sacco, Angelo Ravelli, Anthony K. Shum, Marco Gattorno, Paolo Picco

Research output: Contribution to journalArticlepeer-review


Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. We report the case of a young girl that presented at age 3 with polyarticular arthritis, chronic cough and high titer rheumatoid factor. Radiologic imaging showed interstitial lung disease with tree-in-a-bud nodules and air-filled cysts. Targeted genetic analysis of COPA gene showed the reported c.698G > A mutation. The patient was lost to follow up for 3 years during which therapy was discontinued with the development of joint damage and deformities. Analysis of peripheral blood showed activation of type 1 interferon pathway, which was also confirmed in 4 previously reported COPA patients. Our observations underline the importance of early treatment in COPA disease to avoid loss of joint function. Furthermore, our results suggest a role for type 1 interferon in disease pathogenesis opening the possibility for targeted therapeutic approaches.

Original languageEnglish
Pages (from-to)33-36
Number of pages4
JournalClinical Immunology
Publication statusPublished - Feb 1 2018


  • Autoinflammatory diseases
  • COPA syndrome
  • Type 1 interferonopathy

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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