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Page 1
Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.
Setta-Kaffetzi N, Navarini AA, Patel VM, Pullabhatla V, Pink AE, Choon SE, Allen MA, Burden AD, Griffiths CE, Seyger MM, Kirby B, Trembath RC, Simpson MA, Smith CH, Capon F, Barker JN. Setta-Kaffetzi N, et al. J Invest Dermatol. 2013 May;133(5):1366-9. doi: 10.1038/jid.2012.490. Epub 2013 Jan 10. J Invest Dermatol. 2013. PMID: 23303454 Free article. No abstract available.
Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.
Navarini AA, Valeyrie-Allanore L, Setta-Kaffetzi N, Barker JN, Capon F, Creamer D, Roujeau JC, Sekula P, Simpson MA, Trembath RC, Mockenhaupt M, Smith CH. Navarini AA, et al. Among authors: setta kaffetzi n. J Invest Dermatol. 2013 Jul;133(7):1904-7. doi: 10.1038/jid.2013.44. Epub 2013 Jan 28. J Invest Dermatol. 2013. PMID: 23358093 Free article. No abstract available.
Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?
Navarini AA, Valeyrie-Allanore L, Setta-Kaffetzi N, Barker JN, Capon F, Creamer D, Roujeau JC, Sekula P, Simpson MA, Trembath RC, Mockenhaupt M, Smith CH. Navarini AA, et al. Among authors: setta kaffetzi n. J Invest Dermatol. 2014 Feb;134(2):580-581. doi: 10.1038/jid.2013.349. Epub 2013 Aug 16. J Invest Dermatol. 2014. PMID: 23955072 Free article. No abstract available.
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.
Mahil SK, Twelves S, Farkas K, Setta-Kaffetzi N, Burden AD, Gach JE, Irvine AD, Képíró L, Mockenhaupt M, Oon HH, Pinner J, Ranki A, Seyger MMB, Soler-Palacin P, Storan ER, Tan ES, Valeyrie-Allanore L, Young HS, Trembath RC, Choon SE, Szell M, Bata-Csorgo Z, Smith CH, Di Meglio P, Barker JN, Capon F. Mahil SK, et al. Among authors: setta kaffetzi n. J Invest Dermatol. 2016 Nov;136(11):2251-2259. doi: 10.1016/j.jid.2016.06.618. Epub 2016 Jul 5. J Invest Dermatol. 2016. PMID: 27388993 Free PMC article.
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE, Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC, Fraternali F, Smith CH, Barker JN, Capon F. Setta-Kaffetzi N, et al. Am J Hum Genet. 2014 May 1;94(5):790-7. doi: 10.1016/j.ajhg.2014.04.005. Am J Hum Genet. 2014. PMID: 24791904 Free PMC article.