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DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
Prasov L, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R, Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE. Prasov L, et al. J Med Genet. 2022 Mar;59(3):294-304. doi: 10.1136/jmedgenet-2020-107447. Epub 2021 Jan 25. J Med Genet. 2022. PMID: 33495304 Free PMC article.
A recurrent rash with fever and arthropathy.
Jacob SE, Cowen EW, Goldbach-Mansky R, Kastner D, Turner ML. Jacob SE, et al. J Am Acad Dermatol. 2006 Feb;54(2):318-21. doi: 10.1016/j.jaad.2005.07.007. J Am Acad Dermatol. 2006. PMID: 16443062 No abstract available.
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R. Aksentijevich I, et al. N Engl J Med. 2009 Jun 4;360(23):2426-37. doi: 10.1056/NEJMoa0807865. N Engl J Med. 2009. PMID: 19494218 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.
201 results