Clinica Pediatrica e Reumatologia, Istituto Giannina Gaslini, Genova, Italy; Laboratorio di immunologia delle malattie reumatiche, Istituto Giannina Gaslini, Genova, Italy.
Department of Medicine, Division of Pulmonary and Critical Care, University of California San Francisco, San Francisco, CA, USA.
Clin Immunol. 2018 Feb;187:33-36. doi: 10.1016/j.clim.2017.10.001. Epub 2017 Oct 10.
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 3years 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.
COPA 基因突变可引起免疫调节紊乱疾病，其特征为多发性关节炎和进行性间质性肺病伴肺出血。我们报告了一例年轻女孩的病例，她在 3 岁时出现多发性关节炎、慢性咳嗽和高滴度类风湿因子。放射影像学显示间质性肺病伴树芽征结节和充气性囊肿。COPA 基因突变的靶向基因分析显示了报道的 c.698G>A 突变。该患者在 3 年内失访，在此期间停止治疗，导致关节损伤和畸形。外周血分析显示 1 型干扰素通路的激活，在之前报道的 4 例 COPA 患者中也得到了证实。我们的观察结果强调了 COPA 疾病早期治疗以避免关节功能丧失的重要性。此外，我们的结果提示 1 型干扰素在疾病发病机制中的作用，为靶向治疗方法开辟了可能性。
