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

doi:10.2169/internalmedicine.5305-20

CASE REPORTS

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

Author information

Tomoya Nishida
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Department of Medicine and Biosystemic Science, Kyushu University Faculty of Medicine, Japan
Kazuhisa Nakano
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Yoshino Inoue
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Yoko Narumi-Kishimoto
Medical Genome Center, National Research Institute for Child Health and Development, Japan
Tadashi Kaname
Department of Genome Medicine, National Center for Child Health and Development, Japan
Koichi Akashi
Department of Medicine and Biosystemic Science, Kyushu University Faculty of Medicine, Japan
Yoshiya Tanaka
The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan

Keywords: stimulator of interferon genes, STING-associated vasculopathy with onset in infancy, juvenile idiopathic arthritis, interstitial pneumonia

JOURNAL OPEN ACCESS

2021 Volume 60 Issue 7 Pages 1109-1114

DOI https://doi.org/10.2169/internalmedicine.5305-20

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Abstract

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.

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