Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy

Takashi Ishikawa, Eiichiro Tamura, Mureo Kasahara, Hajime Uchida, Masataka Higuchi, Hisato Kobayashi, Hirotaka Shimizu, Eiki Ogawa, Nobuyuki Yotani, Rie Irie, Rika Kosaki, Kenjiro Kosaki, Toru Uchiyama, Masafumi Onodera, Toshinao Kawai

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: STING-associated vasculopathy with onset in infancy (SAVI) is a type-I interferonopathy, characterized by systemic inflammation, peripheral vascular inflammation, and pulmonary manifestations. There are three reports of SAVI patients developing liver disease, but no report of a SAVI patient requiring liver transplantation. Therefore, the relevance of liver inflammation is unclear in SAVI. We report a SAVI patient who developed severe liver disorder following liver transplantation. Methods: SAVI was diagnosed in a 4-year-old girl based on genetic analysis by whole-exome sequencing. We demonstrated clinical features, laboratory findings, and pathological examination of her original and transplanted livers. Results: At 2 months of age, she developed bronchitis showing resistance to bronchodilators and antibiotics. At 10 months of age, she developed liver dysfunction with atypical cholangitis, which required liver transplantation at 1 year of age. At 2 years of age, multiple biliary cysts developed in the transplanted liver. At 3.9 years of age, SAVI was diagnosed by whole-exome sequencing. Inflammatory cells from the liver invaded the stomach wall directly, leading to fatal gastrointestinal bleeding unexpectedly at 4.6 years of age. In pathological findings, there were no typical findings of liver abscess, vasculitis, or graft rejection, but biliary cysts and infiltration of inflammatory cells, including plasmacytes around the bile duct area, in the transplanted liver were noted, which were findings similar to those of her original liver. Conclusion: Although further studies to clarify the mechanisms of the various liver disorders described in SAVI patients are needed, inflammatory liver manifestations may be amplified in the context of SAVI.

Original languageEnglish
JournalJournal of Clinical Immunology
DOIs
Publication statusAccepted/In press - 2021

Keywords

  • Cholangitis
  • Interstitial lung disease
  • Liver transplantation
  • Plasmacyte
  • STING1
  • TMEM173

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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