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 …