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Ivona Aksentijevich
Ivona Aksentijevich
National Human Genome Research Institute, Bethesda
Verified email at mail.nih.gov - Homepage
Title
Cited by
Cited by
Year
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
16181999
Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease
SL Masters, A Simon, I Aksentijevich, DL Kastner
Annual review of immunology 27, 621-668, 2009
13062009
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
10452006
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
10352009
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
10052012
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
9862005
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
8412002
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
7842014
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
6612020
Autoinflammatory disease reloaded: a clinical perspective
DL Kastner, I Aksentijevich, R Goldbach-Mansky
Cell 140 (6), 784-790, 2010
5662010
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
5612002
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
5432016
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
5181998
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
4452007
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
4342012
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
4122001
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
3901992
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
3782012
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+ AT) of rBAT
L Feliubadaló, M Font, J Purroy, F Rousaud, X Estivill, V Nunes, E Golomb, ...
Nature genetics 23 (1), 52-57, 1999
3761999
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
3712017
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