医学
刺
未能茁壮成长
临床表型
疾病
炎症
间质性肺病
皮肤病科
肺
表型
免疫学
病理
内科学
工程类
航空航天工程
生物化学
化学
基因
作者
Kelly K. Barry,Julie S. Kranseler,Sarah N. Robinson
摘要
Abstract STING‐associated vasculopathy with onset in infancy (SAVI) is a rare, monogenic interferonopathy caused by gain‐of‐function variants in STING1 (TMEM173) characterized by systemic inflammation, cutaneous vasculopathy, and interstitial lung disease. We report a case of SAVI attributed to a novel STING1 p.R284T variant who demonstrated characteristic cutaneous features including telangiectasias, livedo and acrocyanotic changes on face and extremities, as well as saddle nose deformity, failure to thrive, inflammatory arthritis and notable lack of pulmonary disease or autoantibody positivity. Due to the risk for progressive and irreversible lung and tissue damage and evolving therapeutic landscape involving the use of Janus kinase inhibitors, it is critical to recognize variable clinical phenotypes to diagnose and consider treatment options for SAVI patients early in their disease course.
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