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 journalArticle

Abstract

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
Volume187
DOIs
Publication statusPublished - Feb 1 2018

Keywords

  • Autoinflammatory diseases
  • COPA syndrome
  • Type 1 interferonopathy

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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