Ivona Aksentijevich

Overview

Best Publications

• Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever

  I. Aksentijevich;M. Centola;Z. M. Deng;R. Sood

  2066
  Citations

• GERMLINE MUTATIONS IN THE EXTRACELLULAR DOMAINS OF THE 55 KDA TNF RECEPTOR, TNFR1, DEFINE A FAMILY OF DOMINANTLY INHERITED AUTOINFLAMMATORY SYNDROMES

  Michael F McDermott;Ivona Aksentijevich;Jérôme Galon;Elizabeth M McDermott

  1633
  Citations

• Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

  Seth L. Masters;Anna Simon;Ivona Aksentijevich;Daniel L. Kastner

  1276
  Citations

• The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP

  Geun-Shik Lee;Naeha Subramanian;Andrew I. Kim;Ivona Aksentijevich

  1180
  Citations

• An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

  Ivona Aksentijevich;Seth L. Masters;Polly J. Ferguson;Paul Dancey

  1090
  Citations

• Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

  David B. Beck;Marcela A. Ferrada;Keith A. Sikora;Amanda K. Ombrello

  1059
  Citations

• Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

  N Zaks;JE Balow;E Mansfield;M. E. Mangelsdorf

  1044
  Citations

• Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition

  Raphaela Goldbach-Mansky;Natalie J Dailey;Scott W Canna;Ana Gelabert

  1029
  Citations

• De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

  Ivona Aksentijevich;Miroslawa Nowak;Mustapha Mallah;Jae Jin Chae

  948
  Citations

• Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

  Qing Zhou;Dan Yang;Amanda K Ombrello;Andrey V Zavialov

  920
  Citations

• Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

  Qing Zhou;Hongying Wang;Daniella M. Schwartz;Monique Stoffels

  622
  Citations

• Autoinflammatory Disease Reloaded: A Clinical Perspective

  Daniel L. Kastner;Ivona Aksentijevich;Raphaela Goldbach-Mansky

  563
  Citations

• The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.

  Keith M Hull;Elizabeth Drewe;Ivona Aksentijevich;Harjot K Singh

  531
  Citations

• Classification criteria for autoinflammatory recurrent fevers

  Marco Gattorno;Michael Hofer;Silvia Federici;Federica Vanoni

  522
  Citations

• Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health.

  Jonathan Samuels;Ivona Aksentijevich;Yelizaveta Torosyan;Michael Centola

  464
  Citations

• The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

  Ivona Aksentijevich;Christopher D. Putnam;Elaine F. Remmers;James L. Mueller

  454
  Citations

• The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers

  Ivona Aksentijevich;Jérôme Galon;Miguel Soares;Elizabeth Mansfield

  450
  Citations

• Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

  Michael J. Ombrello;Elaine F. Remmers;Guangping Sun;Alexandra F. Freeman

  448
  Citations

• Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

  Ivona Aksentijevich;Yelizaveta Torosyan;Jonathan Samuels;Michael Centola

  394
  Citations

• Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

  Lídia Feliubadaló;Mariona Font;Jesús Purroy;Ferran Rousaud

  377
  Citations