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Page 1
Development of the autoinflammatory disease damage index (ADDI).
Ter Haar NM, Annink KV, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler SM, Brogan PA, Cantarini L, Cattalini M, Cochino AV, De Benedetti F, Dedeoglu F, De Jesus AA, Della Casa Alberighi O, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Koné-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Ozen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Gattorno M, Frenkel J. Ter Haar NM, et al. Among authors: ombrello ak. Ann Rheum Dis. 2017 May;76(5):821-830. doi: 10.1136/annrheumdis-2016-210092. Epub 2016 Nov 3. Ann Rheum Dis. 2017. PMID: 27811147 Free 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: ombrello ak. 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.
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: ombrello ak. 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.
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: ombrello ak. 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.
In silico validation of the Autoinflammatory Disease Damage Index.
Ter Haar NM, van Delft ALJ, Annink KV, van Stel H, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler S, Brogan PA, Cantarini L, Cattalini M, Cochino AV, de Benedetti F, Dedeoglu F, de Jesus AA, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Kone-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Özen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Schulert G, Gattorno M, Frenkel J. Ter Haar NM, et al. Among authors: ombrello ak. Ann Rheum Dis. 2018 Nov;77(11):1599-1605. doi: 10.1136/annrheumdis-2018-213725. Epub 2018 Aug 4. Ann Rheum Dis. 2018. PMID: 30077992 Free PMC article.
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: ombrello ak. 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.
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: ombrello ak. 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.
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: ombrello ak. 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.
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.
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