Yiting Chen, Wenhe Zang, Haoyuan Zhong, Xianqin Deng, Wenting Zhong, Lianyu Wang, Xinying Chen
Second Affiliated Hospital of Guangzhou University of Chinese Medicine and Guangdong Provincial Hospital of Chinese Medicine.
China
Frontiers in Immunology
Front Immunol 2025; 15:
DOI: 10.3389/fimmu.2025.1615075
Abstract
STING-associated vasculopathy with onset in infancy (SAVI) represents an identified rare type I interferonopathy, triggered by gain-of-function mutations in the STING1 gene. It is characterized by early-onset systemic inflammation, cutaneous vasculopathy, pulmonary involvement, and recurrent bacterial infections. When conventional treatments prove ineffective in managing clinical symptoms, a high index of suspicion and prompt genetic testing become pivotal in considering the potential therapeutic role of Janus kinase (JAK) inhibitors, with ruxolitinib and tofacitinib emerging as promising treatment options. Here, we present a case involving a patient with severe lung manifestations of SAVI, treated initially with tofacitinib and later switched to ruxolitinib due to inadequate response. During a 24-month follow-up period, while symptoms stabilized under ruxolitinib, chest computed tomography (CT) scans revealed progressive changes. This case report offers valuable insights into the use of JAK inhibitors in a patient with SAVI. It illustrates the complexities of managing such cases and underscores the need for continued investigation into novel therapeutic approaches.
Category
Class I. Pulmonary Hypertension Associated with Inflammation
Genetic Factors Associated with Pulmonary Vascular Disease
Medical Therapy. Efficacy or Lack of Efficacy
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes