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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. Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620. Blood. 2021. PMID: 33512449 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.
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.
200 results