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Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype.
Pediatric Rheumatology ( IF 2.8 ) Pub Date : 2020-05-12 , DOI: 10.1186/s12969-020-00425-w
S L N Clarke 1, 2 , L Robertson 3 , G I Rice 4 , L Seabra 5 , T N Hilliard 6 , Y J Crow 5, 7 , A V Ramanan 1, 8
Affiliation  

BACKGROUND STING-associated vasculopathy with onset in infancy (SAVI) is a type 1 interferonopathy manifesting as a pulmonary and vascular syndrome resulting from gain-of-function mutations in TMEM173, the gene encoding STING. Familial reports in the literature are sparse. CASE PRESENTATION We report a case series of SAVI in a three generation kindred, with a phenotype of interstitial lung disease (ILD) and rheumatoid factor positive polyarticular juvenile idiopathic arthritis (JIA). Current and historical medical records were reviewed for clinical and laboratory information. Whole blood from cases 1 and 2, plus stored appendicectomy tissue from case 3, underwent DNA sequencing of the TMEM173 gene. Peripheral blood RNA was obtained from cases 1 and 2 for functional assessment of the TMEM173 mutation. DNA sequencing identified the same heterozygous TMEM173 mutation (c.463G > A; p.Val155Met) in all three cases, consistent with a diagnosis of the autosomal dominant condition SAVI. Functional assessment of this mutation identified a prominent interferon signature which was confirmed on repeat testing. CONCLUSIONS SAVI presented in this family as ILD with early onset juvenile rheumatoid arthritis. This condition should be considered in all rheumatoid arthritis patients with early-onset ILD and in all JIA patients with ILD.

中文翻译:

表现为青少年特发性关节炎伴间质性肺疾病的1型干扰素病:新表型的报告。

背景技术婴儿期发作的STING相关血管病(SAVI)是1型干扰素病,表现为肺和血管综合征,这是由编码STING的基因TMEM173中的功能获得性突变引起的。文献中的家族报道很少。病例介绍我们报告了三代亲属的SAVI病例系列,其表型为间质性肺病(ILD)和类风湿因子阳性的多关节青少年特发性关节炎(JIA)。审查了当前和历史病历,以获取临床和实验室信息。对病例1和2的全血,以及病例3储存的阑尾切除组织进行TMEM173基因的DNA测序。从病例1和病例2获得外周血RNA,以进行TMEM173突变的功能评估。DNA测序鉴定出在所有三例中相同的杂合TMEM173突变(c.463G> A; p.Val155Met),与常染色体显性遗传条件SAVI的诊断一致。此突变的功能评估确定了突出的干扰素特征,该特征在重复测试中得到了证实。结论SAVI在这个家族中以ILD的形式出现,并伴有早期发作的青少年类风湿关节炎。所有患有早期ILD的类风湿关节炎患者和所有患有ILD的JIA患者均应考虑这种情况。结论SAVI在这个家族中以ILD的形式出现,并伴有早期发作的青少年类风湿关节炎。所有患有早期ILD的类风湿关节炎患者和所有患有ILD的JIA患者均应考虑这种情况。结论SAVI在这个家族中以ILD的形式出现,并伴有早期发作的青少年类风湿关节炎。所有患有早期ILD的类风湿关节炎患者和所有患有ILD的JIA患者均应考虑这种情况。
更新日期:2020-05-12
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