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Activated STING in a vascular and pulmonary syndrome.
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.
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R.
Canna SW, et al.
Nat Genet. 2014 Oct;46(10):1140-6. doi: 10.1038/ng.3089. Epub 2014 Sep 14.
Nat Genet. 2014.
PMID: 25217959
Free PMC article.
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Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.
Kim H, Sanchez GA, Goldbach-Mansky R.
Kim H, et al.
J Mol Med (Berl). 2016 Oct;94(10):1111-1127. doi: 10.1007/s00109-016-1465-5. Epub 2016 Sep 27.
J Mol Med (Berl). 2016.
PMID: 27678529
Free PMC article.
Review.
Item in Clipboard
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.
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Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.
Sanchez GA, de Jesus AA, Goldbach-Mansky R.
Sanchez GA, et al.
Rheum Dis Clin North Am. 2013 Nov;39(4):701-34. doi: 10.1016/j.rdc.2013.08.001. Epub 2013 Sep 21.
Rheum Dis Clin North Am. 2013.
PMID: 24182851
Free PMC article.
Review.
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Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist.
Garg M, de Jesus AA, Chapelle D, Dancey P, Herzog R, Rivas-Chacon R, Muskardin TLW, Reed A, Reynolds JC, Goldbach-Mansky R, Sanchez GAM.
Garg M, et al. Among authors: sanchez gam.
JCI Insight. 2017 Aug 17;2(16):e94838. doi: 10.1172/jci.insight.94838. eCollection 2017 Aug 17.
JCI Insight. 2017.
PMID: 28814674
Free PMC article.
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Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib.
Jabbari A, Dai Z, Xing L, Cerise JE, Ramot Y, Berkun Y, Sanchez GA, Goldbach-Mansky R, Christiano AM, Clynes R, Zlotogorski A.
Jabbari A, et al.
EBioMedicine. 2015 Feb 26;2(4):351-5. doi: 10.1016/j.ebiom.2015.02.015. eCollection 2015 Apr.
EBioMedicine. 2015.
PMID: 26137574
Free PMC article.
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Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C).
Redmond C, Kitakule MM, Son A, Sylvester M, Sacco K, Delmonte O, Licciardi F, Castagnoli R, Poli C, Espinoza Y, Astudillo C, Weber SE, Sanchez GAM, Barron K, Magliocco M, Dobbs K, Zhang Y, Matthews H, Oguz C, Su HC, Notarangelo LD, Frischmeyer-Guerrerio PA, Schwartz DM.
Redmond C, et al. Among authors: sanchez gam.
medRxiv [Preprint]. 2022 Sep 2:2022.08.31.22279265. doi: 10.1101/2022.08.31.22279265.
medRxiv. 2022.
PMID: 36093351
Free PMC article.
Updated.
Preprint.
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