A case of early interferonopathy in a child using modern recommendations for their management

Abstract

The article presents data from the scientific literature about the etiology, pathogenesis, and clinical manifestations of a recently discovered disease - childhood-onset STING-associated vasculopathy (SAVI), which is a genetically determined type I interferonopathy, and it clinically manifestes by a symptom complex of acral ischemia (lupus-like chilblain), interstitial lesions of the lungs and other pathologies of internal organs. SAVI more often manifests itself in the first months of a child’s life and passes under the guise of various autoimmune and infectious diseases. The article provides data on the differential diagnosis of SAVI, and emphasizes the importance of genetic testing for diagnosis. Considering the rarity of the pathology, the article includes a translation of the ACR recommendations (2021) regarding the treatment and observation of patients with interferonopathy. The article is illustrated by a description of a child with SAVI, whose diagnosis was carried out according to the principles proposed in these recommendations. The principles of follow-up of the child are described, the need for multidisciplinary management of patients with SAVI is emphasized. Current data on the prognosis and further course of the disease are provided. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.