Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes MF McDermott, I Aksentijevich, J Galon, EM McDermott, BW Ogunkolade, ... Cell 97 (1), 133-144, 1999 | 1665 | 1999 |
Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease SL Masters, A Simon, I Aksentijevich, DL Kastner Annual review of immunology 27 (1), 621-668, 2009 | 1331 | 2009 |
The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP GS Lee, N Subramanian, AI Kim, I Aksentijevich, R Goldbach-Mansky, ... Nature 492 (7427), 123-127, 2012 | 1073 | 2012 |
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition R Goldbach-Mansky, NJ Dailey, SW Canna, A Gelabert, J Jones, BI Rubin, ... New England Journal of Medicine 355 (6), 581-592, 2006 | 1067 | 2006 |
An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist I Aksentijevich, SL Masters, PJ Ferguson, P Dancey, J Frenkel, ... New England Journal of Medicine 360 (23), 2426-2437, 2009 | 1058 | 2009 |
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study M Tunca, H Ozdogan, O Kasapcopur, F Yalcinkaya, E Tutar, R Topaloglu, ... Medicine (Baltimore) 84 (1), 1-11, 2005 | 1033 | 2005 |
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal‐onset multisystem inflammatory disease (NOMID … I Aksentijevich, M Nowak, M Mallah, JJ Chae, WT Watford, SR Hofmann, ... Arthritis & Rheumatism 46 (12), 3340-3348, 2002 | 855 | 2002 |
Early-onset stroke and vasculopathy associated with mutations in ADA2 Q Zhou, D Yang, AK Ombrello, AV Zavialov, C Toro, AV Zavialov, ... New England Journal of Medicine 370 (10), 911-920, 2014 | 834 | 2014 |
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease DB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ... New England Journal of Medicine 383 (27), 2628-2638, 2020 | 805 | 2020 |
Autoinflammatory disease reloaded: a clinical perspective DL Kastner, I Aksentijevich, R Goldbach-Mansky Cell 140 (6), 784-790, 2010 | 581 | 2010 |
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease Q Zhou, H Wang, DM Schwartz, M Stoffels, YH Park, Y Zhang, D Yang, ... Nature genetics 48 (1), 67-73, 2016 | 571 | 2016 |
The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder KM Hull, E Drewe, I Aksentijevich, HK Singh, K Wong, EM McDermott, ... Medicine 81 (5), 349-368, 2002 | 569 | 2002 |
Familial Mediterranean fever at the millennium clinical spectrum, ancient mutations, and a survey of 100 American referrals to the national institutes of health J Samuels, I Aksentijevich, Y Torosyan, M Centola, Z Deng, R Sood, ... Medicine 77 (4), 268-297, 1998 | 540 | 1998 |
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model I Aksentijevich, C D. Putnam, EF Remmers, JL Mueller, J Le, RD Kolodner, ... Arthritis & Rheumatism 56 (4), 1273-1285, 2007 | 457 | 2007 |
Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions MJ Ombrello, EF Remmers, G Sun, AF Freeman, S Datta, P Torabi-Parizi, ... New England Journal of Medicine 366 (4), 330-338, 2012 | 443 | 2012 |
The tumor-necrosis-factor receptor–associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic … I Aksentijevich, J Galon, M Soares, E Mansfield, K Hull, HH Oh, ... The American Journal of Human Genetics 69 (2), 301-314, 2001 | 417 | 2001 |
Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16 E Pras, I Aksentijevich, L Gruberg, JE Balow Jr, L Prosen, M Dean, ... New England Journal of Medicine 326 (23), 1509-1513, 1992 | 407 | 1992 |
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation K Manthiram, Q Zhou, I Aksentijevich, DL Kastner Nature immunology 18 (8), 832-842, 2017 | 393 | 2017 |
Classification criteria for autoinflammatory recurrent fevers M Gattorno, M Hofer, S Federici, F Vanoni, F Bovis, I Aksentijevich, ... Annals of the rheumatic diseases 78 (8), 1025-1032, 2019 | 389 | 2019 |
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency Q Zhou, GS Lee, J Brady, S Datta, M Katan, A Sheikh, MS Martins, ... The American Journal of Human Genetics 91 (4), 713-720, 2012 | 387 | 2012 |