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Page 1
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
Lee W, Stone DL, Hoffmann P, Rosenzweig S, Tsai WL, Gadina M, Romeo T, Lee CR, Randazzo D, Pimpale Chavan P, Manthiram K, Canna S, Park YH, Ombrello AK, Aksentijevich I, Kastner DL, Chae JJ. Lee W, et al. Among authors: stone dl. Ann Rheum Dis. 2024 May 15;83(6):787-798. doi: 10.1136/ard-2023-225085. Ann Rheum Dis. 2024. PMID: 38408849 Free PMC article.
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I. Giannelou A, et al. Among authors: stone dl. Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22. Ann Rheum Dis. 2018. PMID: 29358286 Free PMC article.
Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome.
Mistry P, Carmona-Rivera C, Ombrello AK, Hoffmann P, Seto NL, Jones A, Stone DL, Naz F, Carlucci P, Dell'Orso S, Gutierrez-Cruz G, Sun HW, Kastner DL, Aksentijevich I, Kaplan MJ. Mistry P, et al. Among authors: stone dl. Ann Rheum Dis. 2018 Dec;77(12):1825-1833. doi: 10.1136/annrheumdis-2018-213746. Epub 2018 Aug 21. Ann Rheum Dis. 2018. PMID: 30131320 Free PMC article.
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features.
Schwartz DM, Kitakule MM, Dizon BL, Gutierrez-Huerta C, Blackstone SA, Burma AM, Son A, Deuitch N, Rosenzweig S, Komarow H, Stone DL, Jones A, Nehrebecky M, Hoffmann P, Romeo T, de Jesus AA, Alehashemi S, Garg M, Torreggiani S, Montealegre Sanchez GA, Honer K, Souto Adeva G, Barron KS, Aksentijevich I, Ombrello AK, Goldbach-Mansky R, Kastner DL, Milner JD, Frischmeyer-Guerrerio P. Schwartz DM, et al. Among authors: stone dl. Ann Rheum Dis. 2021 Jun;80(6):788-795. doi: 10.1136/annrheumdis-2020-219137. Epub 2021 Feb 22. Ann Rheum Dis. 2021. PMID: 33619160 Free PMC article.
Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts.
Balow JE Jr, Ryan JG, Chae JJ, Booty MG, Bulua A, Stone D, Sun HW, Greene J, Barham B, Goldbach-Mansky R, Kastner DL, Aksentijevich I. Balow JE Jr, et al. Among authors: stone d. Ann Rheum Dis. 2013 Jun;72(6):1064-70. doi: 10.1136/annrheumdis-2012-202082. Epub 2012 Dec 5. Ann Rheum Dis. 2013. PMID: 23223423 Free PMC article.
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: stone d. Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32. doi: 10.1073/pnas.1612594113. Epub 2016 Aug 24. Proc Natl Acad Sci U S A. 2016. PMID: 27559085 Free PMC article.
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.
Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, Leavis HL, Ozen S, Schwartz DM, Stone DL, van Royen-Kerkof A, Kastner DL, Aksentijevich I, Laxer RM. Aeschlimann FA, et al. Among authors: stone dl. Ann Rheum Dis. 2018 May;77(5):728-735. doi: 10.1136/annrheumdis-2017-212403. Epub 2018 Jan 9. Ann Rheum Dis. 2018. PMID: 29317407
Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20.
Schwartz DM, Blackstone SA, Sampaio-Moura N, Rosenzweig S, Burma AM, Stone D, Hoffmann P, Jones A, Romeo T, Barron KS, Waldman MA, Aksentijevich I, Kastner DL, Milner JD, Ombrello AK. Schwartz DM, et al. Among authors: stone d. Ann Rheum Dis. 2020 Mar;79(3):429-431. doi: 10.1136/annrheumdis-2019-215918. Epub 2019 Nov 25. Ann Rheum Dis. 2020. PMID: 31767699 Free PMC article. No abstract available.
Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
Stone DL, Ombrello A, Arostegui JI, Schneider C, Dang V, de Jesus A, Girard-Guyonvarc'h C, Gabay C, Lee W, Chae JJ, Aksentijevich I, Goldbach-Mansky RT, Kastner DL, Canna SW. Stone DL, et al. Arthritis Rheumatol. 2022 Feb;74(2):353-357. doi: 10.1002/art.41976. Epub 2022 Jan 3. Arthritis Rheumatol. 2022. PMID: 34492165 Free PMC article.
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.
Park YH, Remmers EF, Lee W, Ombrello AK, Chung LK, Shilei Z, Stone DL, Ivanov MI, Loeven NA, Barron KS, Hoffmann P, Nehrebecky M, Akkaya-Ulum YZ, Sag E, Balci-Peynircioglu B, Aksentijevich I, Gül A, Rotimi CN, Chen H, Bliska JB, Ozen S, Kastner DL, Shriner D, Chae JJ. Park YH, et al. Among authors: stone dl. Nat Immunol. 2020 Aug;21(8):857-867. doi: 10.1038/s41590-020-0705-6. Epub 2020 Jun 29. Nat Immunol. 2020. PMID: 32601469 Free PMC article.
125 results