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Ivona Aksentijevich
Researcher at National Institutes of Health
Publications - 196
Citations - 21611
Ivona Aksentijevich is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Familial Mediterranean fever & Gene. The author has an hindex of 61, co-authored 181 publications receiving 18153 citations.
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Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?
Ivona Aksentijevich,Luis Gruberg,Luis Gruberg,Elon Pras,James E. Balow,Michal Kovo,Ephraim Gazit,Michael Dean,Mordechai Pras,Daniel L. Kastner +9 more
TL;DR: It would appear that linkage to chromosome 17 is a “false positive” (type I) error, and chromosome 17 does not encode a major FMF susceptibility gene for some of the families, nor does it encode a disease-modifying gene.
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Editorial: Autoinflammatory Diseases: From Genes to Bedside.
TL;DR: This poster presents a poster presented at the 2016 International Conference of the American Academy of Pathologists on Autoinflammatory Diseases and Vasculitis to highlight the need to understand more fully the mechanism behind inflammation and its role in disease progression.
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Corrigendum: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation
TL;DR: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation that are unrecognised in previous studies and pose new threats to human health.
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Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features
Daniella M. Schwartz,Moses M. Kitakule,Brian Dizon,Cristhian A Gutierrez-Huerta,Sarah A Blackstone,Aarohan M Burma,Aran Son,Natalie Deuitch,Sofia Rosenzweig,Hirsh D. Komarow,Deborah L. Stone,Anne Jones,Michele Nehrebecky,Patrycja Hoffmann,Tina Romeo,Adriana Almeida de Jesus,Sara Alehashemi,Megha Garg,Sofia Torreggiani,Gina A. Montealegre Sanchez,Katelin Honer,Gema Souto Adeva,Karyl S. Barron,Ivona Aksentijevich,Amanda K. Ombrello,Raphaela Goldbach-Mansky,Daniel L. Kastner,Joshua D. Milner,Pamela A. Frischmeyer-Guerrerio +28 more
TL;DR: In this article, the authors investigated allergic, immunological and clinical phenotypes in FMF (familial Mediterranean fever), CAPS (cryopyrin-associated periodic syndrome), TRAPS (tumour necrosis factor receptor associated periodic syndrome, HIDS (hyper-IgD syndrome), PAPA (pyogenic arthritis, pyoderma gangrenosum and acne), DADA2 (deficiency of adenosine deaminase 2), HA20 (haploinsufficiency of A20), CANDLE (chronic atypical
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RIPK1-Associated Inborn Errors of Innate Immunity.
TL;DR: In this paper, the authors discuss the molecular pathogenesis of RIPK1-deficiency and cleavage-resistant (CRIA) disorders and summarizes the clinical manifestations of respective diseases to help with the identification of new patients.