First report of SAVI syndrome in Panama due to a variant of the STING1 gene in patient with emphysema and idiopathic pulmonary fibrosis

Authors: Enrique Daniel Austin-Ward, Edgardo Brid

Introduction: The STING gene (Stimulator of Interferon Genes) emerges as a key element in the understanding and management of hyperinflammation and autoimmune conditions. Case: We report an adolescent patient with a history of asthma since early childhood, who after a SARS-CoV-2 infection, presented an exacerbation of respiratory symptoms, detecting emphysema, bronchiectasis and pulmonary fibrosis and in whom a pathogenic variant with gain of function of the STING gene was detected, allowing the diagnosis of SAVI (Sting-Associated Vasculopathy with onset in Infancy), which is the first case reported in Panama. Conclusions: JAK protein inhibitors and other innovative strategies constitute a therapeutic option in these cases, as well as other innovative strategies still under development, in which interferon inhibitors such as Zeatin, a cytokinin present in plants, as well as other natural products, may play a role.