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Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.
Goldbach-Mansky R. Goldbach-Mansky R. Clin Exp Immunol. 2012 Mar;167(3):391-404. doi: 10.1111/j.1365-2249.2011.04533.x. Clin Exp Immunol. 2012. PMID: 22288582 Free PMC article. Review.
Systemic Autoimmunity in a Patient With CANDLE Syndrome.
Yamazaki-Nakashimada MA, Santos-Chávez EE, de Jesus AA, Rivas-Larrauri F, Guzmán-Martínez MN, Goldbach-Mansky R, Espinosa-Padilla S, Sáez-de-Ocariz MD, Orozco-Covarrubias L, Blancas-Galicia L. Yamazaki-Nakashimada MA, et al. J Investig Allergol Clin Immunol. 2019 Feb;29(1):75-76. doi: 10.18176/jiaci.0338. J Investig Allergol Clin Immunol. 2019. PMID: 30785112 No abstract available.
Recurrent fevers, progressive lipodystrophy, and annular plaques in a child.
Cardis MA, Montealegre Sanchez GA, Goldbach-Mansky R, Richard Lee CC, Cowen EW. Cardis MA, et al. J Am Acad Dermatol. 2019 Jan;80(1):291-295. doi: 10.1016/j.jaad.2018.08.043. Epub 2018 Sep 8. J Am Acad Dermatol. 2019. PMID: 30205133
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.
IL-21 drives expansion and plasma cell differentiation of autoreactive CD11chiT-bet+ B cells in SLE.
Wang S, Wang J, Kumar V, Karnell JL, Naiman B, Gross PS, Rahman S, Zerrouki K, Hanna R, Morehouse C, Holoweckyj N, Liu H; Autoimmunity Molecular Medicine Team, Manna Z, Goldbach-Mansky R, Hasni S, Siegel R, Sanjuan M, Streicher K, Cancro MP, Kolbeck R, Ettinger R. Wang S, et al. Nat Commun. 2018 May 1;9(1):1758. doi: 10.1038/s41467-018-03750-7. Nat Commun. 2018. PMID: 29717110 Free PMC article.
Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases.
Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. Han S, et al. J Immunol. 2014 Mar 15;192(6):2551-63. doi: 10.4049/jimmunol.1302884. Epub 2014 Feb 7. J Immunol. 2014. PMID: 24510966 Free PMC article.
Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).
Chang Z, Spong CY, Jesus AA, Davis MA, Plass N, Stone DL, Chapelle D, Hoffmann P, Kastner DL, Barron K, Goldbach-Mansky RT, Stratton P. Chang Z, et al. Arthritis Rheumatol. 2014 Nov;66(11):3227-32. doi: 10.1002/art.38811. Arthritis Rheumatol. 2014. PMID: 25223501 Free PMC article.
Classification criteria for autoinflammatory recurrent fevers.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Gattorno M, et al. Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Ann Rheum Dis. 2019. PMID: 31018962 Review.
Updates on autoinflammatory diseases.
Martinez-Quiles N, Goldbach-Mansky R. Martinez-Quiles N, et al. Curr Opin Immunol. 2018 Dec;55:97-105. doi: 10.1016/j.coi.2018.09.014. Epub 2018 Nov 16. Curr Opin Immunol. 2018. PMID: 30453204 Review.
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA. Ferreira CR, et al. J Clin Immunol. 2019 Jan;39(1):75-80. doi: 10.1007/s10875-018-0572-1. Epub 2018 Dec 20. J Clin Immunol. 2019. PMID: 30574673 Free PMC article.
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