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Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation.
Lin B, Torreggiani S, Kahle D, Rumsey DG, Wright BL, Montes-Cano MA, Silveira LF, Alehashemi S, Mitchell J, Aue AG, Ji Z, Jin T, de Jesus AA, Goldbach-Mansky R. Lin B, et al. Among authors: de jesus aa. Front Immunol. 2021 Mar 22;12:636225. doi: 10.3389/fimmu.2021.636225. eCollection 2021. Front Immunol. 2021. PMID: 33833757 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. Among authors: de jesus aa. 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.
Genetically defined autoinflammatory diseases.
de Jesus AA, Goldbach-Mansky R. de Jesus AA, et al. Oral Dis. 2016 Oct;22(7):591-604. doi: 10.1111/odi.12448. Epub 2016 Apr 14. Oral Dis. 2016. PMID: 26837051 Free PMC article. Review.
Reply.
Canna SW, Girard C, Malle L, de Jesus A, Romberg N, Kelsen J, Surrey LF, Russo P, Sleight A, Schiffrin E, Gabay C, Goldbach-Mansky R, Behrens EM. Canna SW, et al. J Allergy Clin Immunol. 2017 Jul;140(1):316-317. doi: 10.1016/j.jaci.2017.03.016. Epub 2017 Apr 29. J Allergy Clin Immunol. 2017. PMID: 28460789 No abstract available.
Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges.
Kuemmerle-Deschner JB, Verma D, Endres T, Broderick L, de Jesus AA, Hofer F, Blank N, Krause K, Rietschel C, Horneff G, Aksentijevich I, Lohse P, Goldbach-Mansky R, Hoffman HM, Benseler SM. Kuemmerle-Deschner JB, et al. Among authors: de jesus aa. Arthritis Rheumatol. 2017 Nov;69(11):2233-2240. doi: 10.1002/art.40208. Epub 2017 Oct 17. Arthritis Rheumatol. 2017. PMID: 28692792
Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients.
Kim H, Brooks KM, Tang CC, Wakim P, Blake M, Brooks SR, Montealegre Sanchez GA, de Jesus AA, Huang Y, Tsai WL, Gadina M, Prakash A, Janes JM, Zhang X, Macias WL, Kumar P, Goldbach-Mansky R. Kim H, et al. Among authors: de jesus aa. Clin Pharmacol Ther. 2018 Aug;104(2):364-373. doi: 10.1002/cpt.936. Epub 2017 Dec 8. Clin Pharmacol Ther. 2018. PMID: 29134648 Free PMC article.
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