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

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 imm...

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Autores principales: Nishida, Tomoya, Nakano, Kazuhisa, Inoue, Yoshino, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Akashi, Koichi, Tanaka, Yoshiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8079908/
https://www.ncbi.nlm.nih.gov/pubmed/33162473
http://dx.doi.org/10.2169/internalmedicine.5305-20
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author Nishida, Tomoya
Nakano, Kazuhisa
Inoue, Yoshino
Narumi-Kishimoto, Yoko
Kaname, Tadashi
Akashi, Koichi
Tanaka, Yoshiya
author_facet Nishida, Tomoya
Nakano, Kazuhisa
Inoue, Yoshino
Narumi-Kishimoto, Yoko
Kaname, Tadashi
Akashi, Koichi
Tanaka, Yoshiya
author_sort Nishida, Tomoya
collection PubMed
description 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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spelling pubmed-80799082021-05-11 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 Nishida, Tomoya Nakano, Kazuhisa Inoue, Yoshino Narumi-Kishimoto, Yoko Kaname, Tadashi Akashi, Koichi Tanaka, Yoshiya Intern Med Case Report 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. The Japanese Society of Internal Medicine 2020-11-09 2021-04-01 /pmc/articles/PMC8079908/ /pubmed/33162473 http://dx.doi.org/10.2169/internalmedicine.5305-20 Text en Copyright © 2021 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Nishida, Tomoya
Nakano, Kazuhisa
Inoue, Yoshino
Narumi-Kishimoto, Yoko
Kaname, Tadashi
Akashi, Koichi
Tanaka, Yoshiya
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8079908/
https://www.ncbi.nlm.nih.gov/pubmed/33162473
http://dx.doi.org/10.2169/internalmedicine.5305-20
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