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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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Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
Ivona Aksentijevich,Michael Centola,Zuoming Deng,Raman Sood,James E. Balow,Geryl Wood,Nurit Zaks,Elizabeth Mansfield,Xinguo Chen,S. Eisenberg,Anil Vedula,Neta Shafran,Nina Raben,Elon Pras,M. Pras,DL Kastner,Trevor Blake,Andreas D. Baxevanis,Christiane M. Robbins,David B. Krizman,Francis S. Collins,Paul P. Liu,Xuejun Chen,M. Shohat,Melanie Hamon,T. L. Kahan,A. Cercek,J. I. Rotter,N. FischelGhodsian,N. Richards,D. A. Shelton,D.L. Gumucio,Y. Yokoyama,Marie Mangelsdorf,A. Orsborn,Robert I. Richards,Darrell O. Ricke,J. M. Buckingham,Robert K. Moyzis,L. L. Deaven,N. A. Doggett +40 more
TL;DR: The cloning of the FMF gene promises to shed light on the regulation of acute inflammatory responses and is described as a member of a family of nuclear factors homologous to the Ro52 autoantigen.
Journal ArticleDOI
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,B. William Ogunkolade,Michael Centola,Elizabeth Mansfield,Massimo Gadina,Leena Karenko,Tom Pettersson,John McCarthy,David M. Frucht,Martin Aringer,Yelizaveta Torosyan,Anna-Maija Teppo,Meredith Wilson,H.Mehmet Karaarslan,Ying Wan,Ian Todd,Geryl Wood,Ryan Schlimgen,Thisum R. Kumarajeewa,Sheldon M. Cooper,John P. Vella,Christopher I. Amos,John C. Mulley,Kathleen A. Quane,Michael G. Molloy,Annamari Ranki,Richard J. Powell,Graham A. Hitman,John J. O'Shea,Daniel L. Kastner +32 more
TL;DR: It is proposed that the autoinflammatory phenotype results from impaired downregulation of membrane TNFR1 and diminished shedding of potentially antagonistic soluble receptor inTNFR1-associated periodic syndromes.
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Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease
TL;DR: An updated classification scheme based on molecular pathophysiology will bring greater clarity to discourse while catalyzing new hypotheses both at the bench and at the bedside, supplanting a clinical classification that has served well but is opaque to the genetic, immunologic, and therapeutic interrelationships now before us.
Journal ArticleDOI
Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition
Raphaela Goldbach-Mansky,Natalie J Dailey,Scott W. Canna,Ana Gelabert,Janet Jones,Benjamin I. Rubin,H. Jeffrey Kim,Carmen C. Brewer,Christopher K. Zalewski,Edythe Wiggs,Suvimol Hill,Maria L. Turner,Barbara I. Karp,Ivona Aksentijevich,Frank Pucino,Scott R. Penzak,Margje H. Haverkamp,Leonard D. Stein,Barbara S. Adams,Terry L. Moore,Robert C. Fuhlbrigge,Bracha Shaham,James N. Jarvis,Kathleen M. O'Neil,Richard K. Vehe,Laurie O Beitz,Gregory C. Gardner,William P Hannan,Robert W. Warren,William Horn,Joe L Cole,Scott M. Paul,Philip N. Hawkins,T. Pham,Christopher Snyder,Robert Wesley,Steven C. Hoffmann,Steven M. Holland,John A. Butman,Daniel L. Kastner +39 more
TL;DR: Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations.
Journal ArticleDOI
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
Ivona Aksentijevich,Seth L. Masters,Polly J. Ferguson,Paul Dancey,Joost Frenkel,Annet van Royen-Kerkhoff,R. M. Laxer,Ulf Tedgård,Edward W. Cowen,Tuyet-Hang Pham,Matthew G. Booty,Jacob D. Estes,Netanya G. Sandler,Nicole Plass,Deborah L. Stone,Maria L. Turner,Suvimol Hill,John A. Butman,Rayfel Schneider,Paul Babyn,Hatem El-Shanti,Elena Pope,Karyl S. Barron,Xinyu Bing,Arian Laurence,Chyi-Chia Richard Lee,Dawn Chapelle,Gillian I. Clarke,Kamal Ohson,Marc Nicholson,Massimo Gadina,Barbara Yang,Benjamin D. Korman,Peter K. Gregersen,P. Martin van Hagen,A. Elisabeth Hak,Marjan Huizing,Proton Rahman,Daniel C. Douek,Elaine F. Remmers,Daniel L. Kastner,Raphaela Goldbach-Mansky +41 more
TL;DR: The term deficiency of the interleukin-1-receptor antagonist, or DIRA, is proposed to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN, resulting in life-threatening systemic inflammation with skin and bone involvement.