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.
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|Titolo:||Type I interferon pathway activation in COPA syndrome|
|Data di pubblicazione:||2018|
|Citazione:||Type I interferon pathway activation in COPA syndrome / Volpi, Stefano; Tsui, Jessica; Mariani, Marcello; Pastorino, Claudia; Caorsi, Roberta; Sacco, Oliviero; Ravelli, Angelo; Shum, Anthony K.; Gattorno, Marco; Picco, Paolo. - In: CLINICAL IMMUNOLOGY. - ISSN 1521-6616. - ELETTRONICO. - 187(2018), pp. 33-36.|
|Appare nelle tipologie:||01.01 - Articolo su rivista|