Stimulator of interferon genes-associated vasculopathy with an onset in infancy diagnosed after the development of atypical pulmonary lesions during treatment as juvenile idiopathic arthritis

Tomoya Nishida, Kazuhisa Nakano, Yoshino Inoue, Yoko Narumi-Kishimoto, Tadashi Kaname, Koichi Akashi, Yoshiya Tanaka

研究成果: Contribution to journalArticle査読

抄録

An 18-year-old man showed swelling, pain, and limited motion of the hand, knee, and foot joints without X-ray abnormalities at 2 years old (X-16). In X-12, interstitial pneumonia was observed. He was diagnosed with juvenile idiopathic arthritis associated with interstitial pneumonia and received immunosuppressive therapy. However, interstitial pneumonia progressed, and in X-2, he was referred to our hospital. Whole-exome sequencing and an in silico analysis revealed a gain-of-function mutation in TMEM173 (p.R281Q), and he was diagnosed with stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI). We encountered the first SAVI case in Japan.

本文言語英語
ページ(範囲)1109-1114
ページ数6
ジャーナルInternal Medicine
60
7
DOI
出版ステータス出版済み - 2021

All Science Journal Classification (ASJC) codes

  • 内科学

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