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Year Number of Results
2014 1
2015 2
2016 1
2017 1
2018 1
2019 5
2020 2
2021 1
2022 1
2023 1
2024 0

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14 results

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Page 1
Activated STING in a vascular and pulmonary syndrome.
Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CR, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R. Liu Y, et al. N Engl J Med. 2014 Aug 7;371(6):507-518. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16. N Engl J Med. 2014. PMID: 25029335 Free PMC article.
METHODS: We analyzed the DNA of an index patient with early-onset systemic inflammation, cutaneous vasculopathy, and pulmonary inflammation. We sequenced a candidate gene, TMEM173, encoding the stimulator of interferon genes (STING), in this patient and in five unre …
METHODS: We analyzed the DNA of an index patient with early-onset systemic inflammation, cutaneous vasculopathy, and pulmonary inflammation. …
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.
Keskitalo S, Haapaniemi E, Einarsdottir E, Rajamäki K, Heikkilä H, Ilander M, Pöyhönen M, Morgunova E, Hokynar K, Lagström S, Kivirikko S, Mustjoki S, Eklund K, Saarela J, Kere J, Seppänen MRJ, Ranki A, Hannula-Jouppi K, Varjosalo M. Keskitalo S, et al. Front Immunol. 2019 Dec 5;10:2770. doi: 10.3389/fimmu.2019.02770. eCollection 2019. Front Immunol. 2019. PMID: 31866997 Free PMC article.
Molecular mechanisms underlying the variable phenotype-genotype correlation are presently unclear. Here, we report a novel gain-of-function G207E STING mutation causing a distinct phenotype with alopecia, photosensitivity, thyroid dysfunction, and features of STING- …
Molecular mechanisms underlying the variable phenotype-genotype correlation are presently unclear. Here, we report a novel gain-of-function …
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. SAVI is mainly characterized by fever attacks and skin and respiratory manifestations such as interstitial …
Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a very rare autoinflammatory disease r …
Newly recognized Mendelian disorders with rheumatic manifestations.
de Jesus AA, Goldbach-Mansky R. de Jesus AA, et al. Curr Opin Rheumatol. 2015 Sep;27(5):511-9. doi: 10.1097/BOR.0000000000000207. Curr Opin Rheumatol. 2015. PMID: 26196376 Free PMC article. Review.
These include autosomal-dominant gain-of function mutations in viral innate immune sensors or their adaptors, TMEM173/STING IFIH1/MDA5 and DDX58/RIG-I that cause complex clinical syndromes distinct from IL-1-mediated diseases and present with a chronic type I interf …
These include autosomal-dominant gain-of function mutations in viral innate immune sensors or their adaptors, TMEM173/STING IF …
The Challenge of Diagnosing SAVI: Case Studies.
Cao Y, Jiang LP. Cao Y, et al. Pediatr Allergy Immunol Pulmonol. 2019 Dec 1;32(4):167-172. doi: 10.1089/ped.2019.1054. Epub 2019 Dec 11. Pediatr Allergy Immunol Pulmonol. 2019. PMID: 32140288 Free PMC article.
Background: Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) was first described in 2014 as a type I interferonopathy resulting from heterozygous mutations in the transmembrane protein 173 (TMEM173) gene. ...In 2018, mutati …
Background: Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) was first described in 2014 a …
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. ...Transbronchial lung biopsy was performed in one patient revealing pulmonary vasculitis. Skin biopsy was performed in one patient with changes of vasculiti …
PURPOSE: STING-associated vasculopathy with onset in infancy (SAVI) is a new rare auto-inflammatory disease. ...Transbronchial lung b …
Antiviral role of grouper STING against iridovirus infection.
Huang Y, Ouyang Z, Wang W, Yu Y, Li P, Zhou S, Wei S, Wei J, Huang X, Qin Q. Huang Y, et al. Fish Shellfish Immunol. 2015 Nov;47(1):157-67. doi: 10.1016/j.fsi.2015.09.014. Epub 2015 Sep 7. Fish Shellfish Immunol. 2015. PMID: 26359551
Stimulator of interferon genes (STING, also known as MITA, ERIS, MPYS or TMEM173) has been identified as a central component in the innate immune response to cytosolic DNA and RNA derived from different pathogens. However, the detailed role of STING during fi …
Stimulator of interferon genes (STING, also known as MITA, ERIS, MPYS or TMEM173) has been identified as a central component i …
5-Fluorouracil efficacy requires anti-tumor immunity triggered by cancer-cell-intrinsic STING.
Tian J, Zhang D, Kurbatov V, Wang Q, Wang Y, Fang D, Wu L, Bosenberg M, Muzumdar MD, Khan S, Lu Q, Yan Q, Lu J. Tian J, et al. EMBO J. 2021 Apr 1;40(7):e106065. doi: 10.15252/embj.2020106065. Epub 2021 Feb 22. EMBO J. 2021. PMID: 33615517 Free PMC article.
Through modeling 5-FU response of murine colon and melanoma tumors, we report that effective reduction of tumor burden by 5-FU is dependent on anti-tumor immunity triggered by the activation of cancer-cell-intrinsic STING. While the loss of STING does not induce 5-F …
Through modeling 5-FU response of murine colon and melanoma tumors, we report that effective reduction of tumor burden by 5-FU is dependent …
Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).
Picard C, Thouvenin G, Kannengiesser C, Dubus JC, Jeremiah N, Rieux-Laucat F, Crestani B, Belot A, Thivolet-Béjui F, Secq V, Ménard C, Reynaud-Gaubert M, Reix P. Picard C, et al. Chest. 2016 Sep;150(3):e65-71. doi: 10.1016/j.chest.2016.02.682. Chest. 2016. PMID: 27613991
Pulmonary symptoms were associated with various clinical features of systemic inflammation and vasculitis involving the skin, and appeared at different ages. A strong interferon signature was found in all three cases. ...All three subjects had a mutation in the previously …
Pulmonary symptoms were associated with various clinical features of systemic inflammation and vasculitis involving the skin, and app …
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 inflammation primarily affecting the …
BACKGROUND: Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI), caused by gain-of-function mu …
14 results