Type I interferon pathway activation in COPA syndrome
Type I interferon pathway activation in COPA syndrome
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DOI：
10.1016/j.clim.2017.10.001
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发表时间：
2018-02-01
影响因子：
8.6
通讯作者：
Picco, Paolo
中科院分区：
文献类型：
--
作者：
Volpi, Stefano;Tsui, Jessica;Picco, Paolo
COPA基因突变导致免疫失调性疾病，其特征为多关节关节炎和进行性间质性肺病伴肺出血。我们报告的情况下，一个年轻的女孩，提出在3岁多关节炎，慢性咳嗽和高滴度类风湿因子。影像学检查显示间质性肺疾病伴树芽结节和充满空气的囊肿。COPA基因的靶向遗传分析显示了报道的c.698G>A突变。患者失访3年，在此期间，治疗因关节损伤和畸形而停止。外周血分析显示1型干扰素通路激活，这也在4例先前报道的COPA患者中得到证实。我们的观察强调了COPA疾病早期治疗的重要性，以避免关节功能丧失。此外，我们的研究结果表明1型干扰素在疾病发病机制中的作用，为靶向治疗方法提供了可能性。(C)2017由Elsevier Inc.出版
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. (C) 2017 Published by Elsevier Inc.