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Page 1
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Rice GI, et al. Among authors: cimaz r. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686847 Free PMC article.
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R. de Jesus AA, et al. Among authors: cimaz r. J Clin Invest. 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. J Clin Invest. 2020. PMID: 31874111 Free PMC article. Clinical Trial.
2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Juvenile Dermatomyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative.
Rider LG, Aggarwal R, Pistorio A, Bayat N, Erman B, Feldman BM, Huber AM, Cimaz R, Cuttica RJ, de Oliveira SK, Lindsley CB, Pilkington CA, Punaro M, Ravelli A, Reed AM, Rouster-Stevens K, van Royen-Kerkhof A, Dressler F, Magalhaes CS, Constantin T, Davidson JE, Magnusson B, Russo R, Villa L, Rinaldi M, Rockette H, Lachenbruch PA, Miller FW, Vencovsky J, Ruperto N; International Myositis Assessment and Clinical Studies Group and the Paediatric Rheumatology International Trials Organisation. Rider LG, et al. Among authors: cimaz r. Arthritis Rheumatol. 2017 May;69(5):911-923. doi: 10.1002/art.40060. Epub 2017 Apr 6. Arthritis Rheumatol. 2017. PMID: 28382778 Free PMC article.
Development of the 2023 ACR/EULAR Antiphospholipid Syndrome Classification Criteria, Phase III-D Report: Multicriteria Decision Analysis.
Barbhaiya M, Zuily S, Amigo MC, Andrade D, Avcin T, Bertolaccini ML, Branch DW, Costedoat-Chalumeau N, Crowther M, Ramires de Jesus G, Devreese KMJ, Frances C, Garcia D, Gómez-Puerta JA, Guillemin F, Levine SR, Levy RA, Lockshin MD, Ortel TL, Petri M, Sanna G, Sciascia S, Seshan SV, Tektonidou MG, Wahl D, Willis R, Yelnik C, Hendry A, Naden R, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators. Barbhaiya M, et al. Arthritis Care Res (Hoboken). 2024 Dec;76(12):1617-1625. doi: 10.1002/acr.25415. Epub 2024 Sep 30. Arthritis Care Res (Hoboken). 2024. PMID: 39135467
A novel STING variant triggers endothelial toxicity and SAVI disease.
Valeri E, Breggion S, Barzaghi F, Abou Alezz M, Crivicich G, Pagani I, Forneris F, Sartirana C, Costantini M, Costi S, Marino A, Chiarotto E, Colavito D, Cimaz R, Merelli I, Vicenzi E, Aiuti A, Kajaste-Rudnitski A. Valeri E, et al. Among authors: cimaz r. J Exp Med. 2024 Sep 2;221(9):e20232167. doi: 10.1084/jem.20232167. Epub 2024 Jul 2. J Exp Med. 2024. PMID: 38953896 Free PMC article.
2023 ACR/EULAR antiphospholipid syndrome classification criteria.
Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, Amoura Z, Andrade D, Andreoli L, Artim-Esen B, Atsumi T, Avcin T, Belmont HM, Bertolaccini ML, Branch DW, Carvalheiras G, Casini A, Cervera R, Cohen H, Costedoat-Chalumeau N, Crowther M, de Jesús G, Delluc A, Desai S, Sancho M, Devreese KM, Diz-Kucukkaya R, Duarte-García A, Frances C, Garcia D, Gris JC, Jordan N, Leaf RK, Kello N, Knight JS, Laskin C, Lee AI, Legault K, Levine SR, Levy RA, Limper M, Lockshin MD, Mayer-Pickel K, Musial J, Meroni PL, Orsolini G, Ortel TL, Pengo V, Petri M, Pons-Estel G, Gomez-Puerta JA, Raimboug Q, Roubey R, Sanna G, Seshan SV, Sciascia S, Tektonidou MG, Tincani A, Wahl D, Willis R, Yelnik C, Zuily C, Guillemin F, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators. Barbhaiya M, et al. Ann Rheum Dis. 2023 Oct;82(10):1258-1270. doi: 10.1136/ard-2023-224609. Epub 2023 Aug 28. Ann Rheum Dis. 2023. PMID: 37640450 Free article.
The 2023 ACR/EULAR Antiphospholipid Syndrome Classification Criteria.
Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, Amoura Z, Andrade D, Andreoli L, Artim-Esen B, Atsumi T, Avcin T, Belmont HM, Bertolaccini ML, Branch DW, Carvalheiras G, Casini A, Cervera R, Cohen H, Costedoat-Chalumeau N, Crowther M, de Jesus G, Delluc A, Desai S, De Sancho M, Devreese KM, Diz-Kucukkaya R, Duarte-Garcia A, Frances C, Garcia D, Gris JC, Jordan N, Leaf RK, Kello N, Knight JS, Laskin C, Lee AI, Legault K, Levine SR, Levy RA, Limper M, Lockshin MD, Mayer-Pickel K, Musial J, Meroni PL, Orsolini G, Ortel TL, Pengo V, Petri M, Pons-Estel G, Gomez-Puerta JA, Raimboug Q, Roubey R, Sanna G, Seshan SV, Sciascia S, Tektonidou MG, Tincani A, Wahl D, Willis R, Yelnik C, Zuily C, Guillemin F, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators. Barbhaiya M, et al. Arthritis Rheumatol. 2023 Oct;75(10):1687-1702. doi: 10.1002/art.42624. Epub 2023 Aug 28. Arthritis Rheumatol. 2023. PMID: 37635643 Free article.
Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial.
Ramanan AV, Quartier P, Okamoto N, Foeldvari I, Spindler A, Fingerhutová Š, Antón J, Wang Z, Meszaros G, Araújo J, Liao R, Keller S, Brunner HI, Ruperto N; JUVE-BASIS investigators; Paediatric Rheumatology International Trials Organisation. Ramanan AV, et al. Lancet. 2023 Aug 12;402(10401):555-570. doi: 10.1016/S0140-6736(23)00921-2. Epub 2023 Jul 6. Lancet. 2023. PMID: 37423231 Free article. Clinical Trial.
461 results