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Page 1
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Nature. 2020 Jan;577(7788):103-108. doi: 10.1038/s41586-019-1828-5. Epub 2019 Dec 11.
Nature. 2020.
PMID: 31827281
Free PMC article.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, Hanson EP, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I.
Zhou Q, et al. Among authors: barham bk.
Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7.
Nat Genet. 2016.
PMID: 26642243
Free PMC article.
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Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.
Zhou Q, et al. Among authors: barham bk.
N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.
N Engl J Med. 2014.
PMID: 24552284
Free PMC article.
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Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.
Ryan JG, Masters SL, Booty MG, Habal N, Alexander JD, Barham BK, Remmers EF, Barron KS, Kastner DL, Aksentijevich I.
Ryan JG, et al. Among authors: barham bk.
Ann Rheum Dis. 2010 Jul;69(7):1383-8. doi: 10.1136/ard.2009.113415. Epub 2009 Nov 23.
Ann Rheum Dis. 2010.
PMID: 19934105
Free PMC article.
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Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade.
Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, Brown MR, Edwards KM, Ward MM, Colbert RA, Sun HW, Wood GM, Barham BK, Jones A, Aksentijevich I, Goldbach-Mansky R, Athreya B, Barron KS, Kastner DL.
Stojanov S, et al. Among authors: barham bk.
Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7148-53. doi: 10.1073/pnas.1103681108. Epub 2011 Apr 8.
Proc Natl Acad Sci U S A. 2011.
PMID: 21478439
Free PMC article.
Clinical Trial.
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