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JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R. Sanchez GAM, et al. J Clin Invest. 2018 Jul 2;128(7):3041-3052. doi: 10.1172/JCI98814. Epub 2018 Jun 11. J Clin Invest. 2018. PMID: 29649002 Free PMC article.
METHODS: Between October 2011 and February 2017, 10 patients with CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures), 4 patients with SAVI (stimulator of IFN genes-associated [STING-associated] vasculopathy with …
METHODS: Between October 2011 and February 2017, 10 patients with CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and el …
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 …
An Emerging Role for Type I Interferons as Critical Regulators of Blood Coagulation.
Ryan TAJ, O'Neill LAJ. Ryan TAJ, et al. Cells. 2023 Feb 28;12(5):778. doi: 10.3390/cells12050778. Cells. 2023. PMID: 36899914 Free PMC article. Review.
These can manifest as an increased risk of thrombotic complications in infection and in type I interferonopathies such as systemic lupus erythematosus (SLE) and STING-associated vasculopathy with onset in infancy (SAVI). We also co …
These can manifest as an increased risk of thrombotic complications in infection and in type I interferonopathies such as systemic lupus ery …
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
Lodi L, Melki I, Bondet V, Seabra L, Rice GI, Carter E, Lepelley A, Martin-Niclós MJ, Al Adba B, Bader-Meunier B, Barth M, Blauwblomme T, Bodemer C, Boespflug-Tanguy O, Dale RC, Desguerre I, Ducrocq C, Dulieu F, Dumaine C, Ellul P, Hadchouel A, Hentgen V, Hié M, Hully M, Jeziorski E, Lévy R, Mochel F, Orcesi S, Passemard S, Pouletty M, Quartier P, Renaldo F, Seidl R, Shetty J, Neven B, Blanche S, Duffy D, Crow YJ, Frémond ML. Lodi L, et al. J Clin Immunol. 2021 Apr;41(3):603-609. doi: 10.1007/s10875-020-00952-x. Epub 2021 Jan 7. J Clin Immunol. 2021. PMID: 33411153
We collected cerebrospinal fluid (CSF) and serum from patients with Aicardi-Goutieres syndrome (AGS), STING-associated vasculopathy with onset in infancy (SAVI), presumed monogenic T1Is (pT1I), childhood systemic lupus erythematosu …
We collected cerebrospinal fluid (CSF) and serum from patients with Aicardi-Goutieres syndrome (AGS), STING-associated vasc …
Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies.
Kim H, Gunter-Rahman F, McGrath JA, Lee E, de Jesus AA, Targoff IN, Huang Y, O'Hanlon TP, Tsai WL, Gadina M, Miller FW, Goldbach-Mansky R, Rider LG. Kim H, et al. Arthritis Res Ther. 2020 Apr 6;22(1):69. doi: 10.1186/s13075-020-02160-9. Arthritis Res Ther. 2020. PMID: 32252809 Free PMC article.
The Mendelian autoinflammatory interferonopathies, Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature (CANDLE) and STING-Associated Vasculopathy with onset in Infancy (SAVI), are caused by genetic …
The Mendelian autoinflammatory interferonopathies, Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature (CAN …
Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age.
Tang X, Li H, Liu H, Xu H, Yang H, Liu J, Zhao S. Tang X, et al. Orphanet J Rare Dis. 2020 Jan 22;15(1):25. doi: 10.1186/s13023-019-1270-7. Orphanet J Rare Dis. 2020. PMID: 31969166 Free PMC article.
In systemic disease associated ILD, in addition to common etiologies such as vasculitis (10.5%) and connective tissue diseases (9.0%), primary immunodeficiency diseases (PID) associated ILD (9.8%), interstitial pneumonia with autoimmune features (6.8%), and metabolic diseases (6. …
In systemic disease associated ILD, in addition to common etiologies such as vasculitis (10.5%) and connective tissue diseases (9.0%), prima …
APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI).
Abid Q, Best Rocha A, Larsen CP, Schulert G, Marsh R, Yasin S, Patty-Resk C, Valentini RP, Adams M, Baracco R. Abid Q, et al. Am J Kidney Dis. 2020 Feb;75(2):287-290. doi: 10.1053/j.ajkd.2019.07.010. Epub 2019 Oct 7. Am J Kidney Dis. 2020. PMID: 31601430 Free PMC article.
We describe a patient with a genetic condition that results in an increased IFN state, stimulator of IFN genes (STING)-associated vasculopathy with onset in infancy (SAVI), who developed collapsing glomerulopathy during a flare of …
We describe a patient with a genetic condition that results in an increased IFN state, stimulator of IFN genes (STING)-associated …
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan İ, Balamir A, Uğurlu S, Aydın AK, Everest E, Zor S, Önen MÖ, Daşdemir S, Özkaya O, Sözeri B, Tufan A, Yıldırım DG, Yüksel S, Ayaz NA, Ömeroğlu RE, Öztürk K, Çakan M, Söylemezoğlu O, Şahin S, Barut K, Adroviç A, Seyahi E, Özdoğan H, Kasapçopur Ö, Turanlı ET. Karacan İ, et al. Rheumatol Int. 2019 May;39(5):911-919. doi: 10.1007/s00296-019-04252-5. Epub 2019 Feb 19. Rheumatol Int. 2019. PMID: 30783801
We detected pathogenic or likely pathogenic variants compatible with the final diagnoses and inheritance patterns in 14/140 (10%) of patients for the following sAIDs: familial Mediterranean fever (n = 7), deficiency of adenosine deaminase 2 (n = 2), mevalonate kinase deficiency ( …
We detected pathogenic or likely pathogenic variants compatible with the final diagnoses and inheritance patterns in 14/140 (10%) of patient …