Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome.

ABSTRACT:

Objectives

Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhibitor, ruxolitinib.

Methods

We used DNA sequencing to identify mutations in TMEM173 in patients with peripheral blood type I IFN signature. The JAK1/2 inhibitor ruxolitinib was administered on an off-label basis.

Results

We identified three patients with SAVI presenting with skin involvement and progressive severe interstitial lung disease. Indirect echocardiographic signs of pulmonary hypertension were present in one case. Following treatment with ruxol

SUBMITTER: Volpi S 

PROVIDER: S-EPMC7086512 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature