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Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.
Frémond ML, Hadchouel A, Berteloot L, Melki I, Bresson V, Barnabei L, Jeremiah N, Belot A, Bondet V, Brocq O, Chan D, Dagher R, Dubus JC, Duffy D, Feuillet-Soummer S, Fusaro M, Gattorno M, Insalaco A, Jeziorski E, Kitabayashi N, Lopez-Corbeto M, Mazingue F, Morren MA, Rice GI, Rivière JG, Seabra L, Sirvente J, Soler-Palacin P, Stremler-Le Bel N, Thouvenin G, Thumerelle C, Van Aerde E, Volpi S, Willcocks S, Wouters C, Breton S, Molina T, Bader-Meunier B, Moshous D, Fischer A, Blanche S, Rieux-Laucat F, Crow YJ, Neven B. Frémond ML, et al. J Allergy Clin Immunol Pract. 2021 Feb;9(2):803-818.e11. doi: 10.1016/j.jaip.2020.11.007. Epub 2020 Nov 18. J Allergy Clin Immunol Pract. 2021. PMID: 33217613 Free article.
BACKGROUND: Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably characterized by early-onset systemic inflammati …
BACKGROUND: Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopa …
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. Cetin Gedik K, et al. Ann Rheum Dis. 2022 May;81(5):601-613. doi: 10.1136/annrheumdis-2021-221814. Epub 2022 Jan 27. Ann Rheum Dis. 2022. PMID: 35086813 Free PMC article.
OBJECTIVE: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopa …
OBJECTIVE: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/ …
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Wan R, Fänder J, Zakaraia I, Lee-Kirsch MA, Wolf C, Lucas N, Olfe LI, Hendrich C, Jonigk D, Holzinger D, Steindor M, Schmidt G, Davenport C, Klemann C, Schwerk N, Griese M, Schlegelberger B, Stehling F, Happle C, Auber B, Steinemann D, Wetzke M, von Hardenberg S. Wan R, et al. Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. eCollection 2022. Front Immunol. 2022. PMID: 36275728 Free PMC article.
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 (STING1) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI). Previously, only heterozygous and mostly de novo STING1 variants …
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 (STING1) gene cause STING-Associated …
STING-Mediated Lung Inflammation and Beyond.
Frémond ML, Crow YJ. Frémond ML, et al. J Clin Immunol. 2021 Apr;41(3):501-514. doi: 10.1007/s10875-021-00974-z. Epub 2021 Feb 2. J Clin Immunol. 2021. PMID: 33532887 Review.
Mendelian autoinflammatory diseases characterized by constitutive activation of the type I interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding group of inborn errors of immunity. Among the type I interferonopathies, STING-associat …
Mendelian autoinflammatory diseases characterized by constitutive activation of the type I interferon pathway, the so-called type I interfer …
STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib.
Tang X, Xu H, Zhou C, Peng Y, Liu H, Liu J, Li H, Yang H, Zhao S. Tang X, et al. J Clin Immunol. 2020 Jan;40(1):114-122. doi: 10.1007/s10875-019-00690-9. Epub 2019 Nov 8. J Clin Immunol. 2020. PMID: 31705453
PURPOSE: STING-associated vasculopathy with onset in infancy (SAVI) is a new rare auto-inflammatory disease. ...
PURPOSE: STING-associated vasculopathy with onset in infancy (SAVI) is a new rare auto-infl …
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.
Cetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. Cetin Gedik K, et al. Arthritis Rheumatol. 2022 May;74(5):735-751. doi: 10.1002/art.42087. Epub 2022 Mar 21. Arthritis Rheumatol. 2022. PMID: 35315249
OBJECTIVE: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopa …
OBJECTIVE: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/ …
Overview of the rarest causes of fever in newborns: handy hints for the neonatologist.
De Rose DU, Coppola M, Gallini F, Maggio L, Vento G, Rigante D. De Rose DU, et al. J Perinatol. 2021 Mar;41(3):372-382. doi: 10.1038/s41372-020-0744-8. Epub 2020 Jul 27. J Perinatol. 2021. PMID: 32719496 Review.
If fever is combined with organ-specific sterile inflammatory manifestations the suspicion of autoinflammatory disorders should be considered, and the list of such conditions starting in the neonatal period includes chronic infantile neurological cutaneous articular syndrome, mev …
If fever is combined with organ-specific sterile inflammatory manifestations the suspicion of autoinflammatory disorders should be considere …
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome.
Berrada KR, Belot A, Neven B, Ohlmann C, Tronc F, Rice G, Thouvenin G, Dubus JC, Mazenq J, Frémond ML, Stremler N, Soummer-Feuillet S, Cottin V, Reix P. Berrada KR, et al. J Clin Immunol. 2023 Nov;43(8):2156-2164. doi: 10.1007/s10875-023-01595-4. Epub 2023 Oct 10. J Clin Immunol. 2023. PMID: 37814086
Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a very rare autoinflammatory disease related to STING1 mutation. ...
Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) …
Use of Tofacitinib for infant-onset STING-associated vasculopathy: A case report from China.
Shen D, Fan X, Zhou Q, Xu X, Lu M. Shen D, et al. Medicine (Baltimore). 2022 Dec 2;101(48):e31832. doi: 10.1097/MD.0000000000031832. Medicine (Baltimore). 2022. PMID: 36482559 Free PMC article.
BACKGROUND: Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI), caused by gain-of-function mutations in human transmembrane protein 173 (TMEM173), is characterized by widespread chronic infla …
BACKGROUND: Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy …
Transferrable protection by gut microbes against STING-associated lung disease.
Platt DJ, Lawrence D, Rodgers R, Schriefer L, Qian W, Miner CA, Menos AM, Kennedy EA, Peterson ST, Stinson WA, Baldridge MT, Miner JJ. Platt DJ, et al. Cell Rep. 2021 May 11;35(6):109113. doi: 10.1016/j.celrep.2021.109113. Cell Rep. 2021. PMID: 33979608 Free PMC article.
Humans and mice with STING gain-of-function mutations develop a syndrome known as STING-associated vasculopathy with onset in infancy (SAVI), which is characterized by inflammatory or fibrosing lung disease. ...
Humans and mice with STING gain-of-function mutations develop a syndrome known as STING-associated vasculopathy with …
24 results