STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib

  • Xiaolei Tang
  • Hui Xu
  • Chunju Zhou
  • Yun Peng
  • Hui Liu
  • Jinrong Liu
  • Huimin Li
  • Haiming Yang
  • Shunying ZhaoEmail author
Original Article



STING-associated vasculopathy with onset in infancy (SAVI) is a new rare auto-inflammatory disease. The purpose of this study is to report new cases and summarize the manifestations and outcome of SAVI.


We made a retrospective analysis of three pediatric patients diagnosed with SAVI between March 2016 and July 2018 in Beijing Children’s Hospital.


Three patients comprised one boy and two girls. The median age of onset was 4 months. All patients had the same de novo heterozygous mutation (c.463G>A, p. V155M) of TMEM173. All patients presented with interstitial lung disease and one coexisted with diffuse alveolar hemorrhage. Rashes were presented in two patients. Other clinical manifestations include febrile attacks, failure to thrive, arthritis, myositis, cerebrovascular involvement, ureteral calculus, gastroesophageal reflux, and malnutrition. Ground-glass opacities were the most common features of chest computed tomography, followed with cysts and reticular opacities. Transbronchial lung biopsy was performed in one patient revealing pulmonary vasculitis. Skin biopsy was performed in one patient with changes of vasculitis. All patients were treated with corticosteroids and two patients received combined treatment of tofacitinib. The therapeutic effects of tofacitinib were limited on interstitial lung disease in both patients and were poor on rashes in one patient. One patient under the treatment of tofacitinib died.


New clinical aspect of diffuse alveolar hemorrhage is first reported to be associated with SAVI. Unsatisfactory therapeutic effects of tofacitinib are observed in this study and further evaluations are needed.


STING-associated vasculopathy with onset in infancy interstitial lung disease diffuse alveolar hemorrhage tofacitinib child 


Authorship Contributions

Dr. Tang X contributed to the design of the study, data collection and analysis, and writing of the manuscript. Dr. Zhao S contributed to the design of the study, review, and revision of the manuscript. Dr. Zhou C contributed to the analysis of pathologic findings. Dr. Peng Y contributed to the analysis of imaging findings. Dr. Xu H, Dr. Liu H, Dr. Liu J, Dr. Li H, and Dr. Yang H contributed to the data collection and analysis clinical manifestations. All authors have read and approved the manuscript and agree to be accountable for all aspects of the work.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Respiratory Medicine, Beijing Children’s Hospital, National Center for Children’s HealthCapital Medical UniversityBeijingChina
  2. 2.Department of Pathology, Beijing Children’s Hospital, National Center for Children’s HealthCapital Medical UniversityBeijingChina
  3. 3.Department of Radiology, Beijing Children’s Hospital, National Center for Children’s HealthCapital Medical UniversityBeijingChina

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