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Page 1
Recurrent lipoatrophic panniculitis of children.
Torrelo A, Noguera-Morel L, Hernández-Martín A, Clemente D, Barja JM, Buzón L, Azorín D, de Jesús AA, López-Robledillo JC, Colmenero I, Kutzner H, Goldbach-Mansky R, Requena L. Torrelo A, et al. J Eur Acad Dermatol Venereol. 2017 Mar;31(3):536-543. doi: 10.1111/jdv.13858. Epub 2016 Aug 12. J Eur Acad Dermatol Venereol. 2017. PMID: 27515780
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A. Liu Y, et al. Arthritis Rheum. 2012 Mar;64(3):895-907. doi: 10.1002/art.33368. Arthritis Rheum. 2012. PMID: 21953331 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.
201 results