Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome

Area of Science:

• Immunology
• Genetics
• Pulmonology

Background:

• Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory disease caused by STING1 mutations.
• SAVI commonly presents with fever, skin, and severe respiratory issues, including interstitial lung disease and alveolar hemorrhage, often necessitating lung transplantation (LT).
• Previous reports indicate poor outcomes post-LT for SAVI patients, with diagnoses often made after transplantation, precluding timely targeted therapies.

Purpose of the Study:

• To report the experience of managing three SAVI patients who received ruxolitinib before LT across three French lung transplantation centers.
• To describe post-transplant complications and outcomes in SAVI patients treated with ruxolitinib prior to LT.

Main Methods:

• Retrospective case series of three SAVI patients managed in three French lung transplantation centers.
• Patients received ruxolitinib, a Janus kinase 1 and 2 inhibitor (JAK1/2i), for respiratory symptoms prior to undergoing LT.
• Outcomes and post-transplant complications were documented.

Main Results:

• All three patients received ruxolitinib before LT.
• The study describes the post-transplant complications and outcomes in these patients.
• Ruxolitinib's potential benefit for respiratory status in SAVI patients awaiting LT is highlighted.

Conclusions:

• Ruxolitinib may offer a therapeutic option for managing respiratory manifestations of SAVI before LT.
• Further research is needed to establish the efficacy and safety of ruxolitinib in SAVI patients.
• Early diagnosis and targeted therapy are crucial for improving outcomes in SAVI patients requiring LT.