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177 results
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CARD14 expression in dermal endothelial cells in psoriasis.
Harden JL, Lewis SM, Pierson KC, Suárez-Fariñas M, Lentini T, Ortenzio FS, Zaba LC, Goldbach-Mansky R, Bowcock AM, Lowes MA. Harden JL, et al. PLoS One. 2014 Nov 4;9(11):e111255. doi: 10.1371/journal.pone.0111255. eCollection 2014. PLoS One. 2014. PMID: 25369198 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.
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.
Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition.
Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, Jagadeesh KA, Alehashemi S, Erdman L, Grimley M, Talarico S, Bacchetta R, Lewis DB, Canna SW, Laxer RM, Mellins ED, Goldbach-Mansky R, Weinacht KG. Gernez Y, et al. J Allergy Clin Immunol. 2019 Oct;144(4):1122-1125.e6. doi: 10.1016/j.jaci.2019.06.017. Epub 2019 Jul 2. J Allergy Clin Immunol. 2019. PMID: 31271789 Free PMC article. No abstract available.
177 results