CHEST Guidelines-A-17-Year-Old-Girl-Diagnosed-With-STING-Associated

A-17-Year-Old-Girl-Diagnosed-With-STING-Associated

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A 17-year-old girl who underwent lung transplantation for chronic respiratory failure was diagnosed with STING-Associated Vasculopathy with Onset in Infancy (SAVI), a rare type 1 interferonopathy, after presenting with fever, skin lesions, and blood-tinged sputum. Her medical history showed a diagnosis of idiopathic pulmonary hemosiderosis at 17 months old. After lung transplantation, she experienced recurrent fevers and skin eruptions while on immunosuppressants.<br /><br />Physical examination revealed a febrile state, erythematous skin lesions, and crackles in the lungs. Laboratory tests indicated elevated inflammatory markers, while genetic testing confirmed a mutation in the stimulator of interferon genes (STING). This mutation causes excessive inflammation, manifesting as systemic and dermatologic symptoms combined with interstitial lung disease (ILD).<br /><br />SAVI primarily affects the lungs and skin and is characterized by recurrent fever and systemic inflammation. Lung involvement may result in pulmonary fibrosis and end-stage respiratory failure, often determining the prognosis. The condition typically follows an autosomal dominant inheritance pattern but frequently arises from de novo mutations.<br /><br />Therapeutic management for SAVI is challenging since steroids and current disease-modifying therapies offer limited benefits. Emerging treatments such as Janus Kinase (JAK) inhibitors have shown promise by blocking interferon signaling, although their use is complicated by risks of infections and other adverse effects. In this case, the patient showed improvement with the JAK inhibitor baricitinib, but it was discontinued due to gastrointestinal complications related to a post-transplant lymphoproliferative disorder.<br /><br />SAVI should be considered in children with ILD and unexplained systemic symptoms. Genetic testing can confirm the diagnosis, crucial for initiating targeted therapies. Exploring effective dosing of immunosuppressants and JAK inhibitors in the context of transplant patients remains a key area for further research.

Keywords

STING-Associated Vasculopathy

type 1 interferonopathy

lung transplantation

idiopathic pulmonary hemosiderosis

interstitial lung disease

autosomal dominant

Janus Kinase inhibitors

baricitinib

post-transplant lymphoproliferative disorder

genetic testing