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Page 1
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA. Aluri J, et al. Among authors: canna sw. Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620. Blood. 2021. PMID: 33512449 Free PMC article.
mTORC1 links pathology in experimental models of Still's disease and macrophage activation syndrome.
Huang Z, You X, Chen L, Du Y, Brodeur K, Jee H, Wang Q, Linder G, Darbousset R, Cunin P, Chang MH, Wactor A, Wauford BM, Todd MJC, Wei K, Li Y, Levescot A, Iwakura Y, Pascual V, Baldwin NE, Quartier P, Li T, Gianatasio MT, Hasserjian RP, Henderson LA, Sykes DB, Mellins ED, Canna SW, Charles JF, Nigrovic PA, Lee PY. Huang Z, et al. Among authors: canna sw. Nat Commun. 2022 Nov 28;13(1):6915. doi: 10.1038/s41467-022-34480-6. Nat Commun. 2022. PMID: 36443301 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.
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.
Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome.
Weiss ES, Girard-Guyonvarc'h C, Holzinger D, de Jesus AA, Tariq Z, Picarsic J, Schiffrin EJ, Foell D, Grom AA, Ammann S, Ehl S, Hoshino T, Goldbach-Mansky R, Gabay C, Canna SW. Weiss ES, et al. Among authors: canna sw. Blood. 2018 Mar 29;131(13):1442-1455. doi: 10.1182/blood-2017-12-820852. Epub 2018 Jan 11. Blood. 2018. PMID: 29326099 Free PMC article.
98 results