STING-associated vasculopathy with onset in infancy: the first case in Bulgaria and review of the literature

Ganeva, Margarita; Petrova, Guergana; Mihailova, Snezhina; Gesheva, Nevena; Nedevska, Mariya; Boyadzhiev, Martin; Shivachev, Petar; Stefanov, Stefan

doi:10.1080/13102818.2022.2112909

Cited by 2 publications

(2 citation statements)

References 21 publications

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“…Although these inhibitors cannot reverse the structural lung changes, they have been shown to improve respiratory symptoms and prevent the progression of lung damage. In addition, these inhibitors produce significant relief of cutaneous manifestations and a regularization of systemic inflammatory activity [12,14,15]. DOI: 10.37980/im.journal.ggcl.20232280…”

Section: Discussionmentioning

confidence: 99%

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

Austin-Ward,

Brid

2023

Gene Clin Genom

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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.

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Section: Discussionmentioning

confidence: 99%

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

Austin-Ward,

Brid

2023

Gene Clin Genom

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“…56 випадків SAVI вік на момент встановлення діагнозу коливається в широких межах від 1 дня до 65 років, обстежено трохи більше (54%) пацієнтів чоловічої статі [42]. Причому вік початку симптомів ще до 1 місяця від народження спостерігається в третини хворих, від 1 місяця до 1 року -у 41,2%, після 1 року -лише у 23,5% [13,19].…”

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

Oshlіanska,

Okhotnikova,

Usova

et al. 2023

MPU

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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.

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STING-associated vasculopathy with onset in infancy: the first case in Bulgaria and review of the literature

Cited by 2 publications

References 21 publications

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

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

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

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