User profiles for IVONA AKSENTIJEVICH

Ivona Aksentijevich

National Human Genome Research Institute, Bethesda
Verified email at mail.nih.gov
Cited by 27503

[HTML][HTML] 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… - Cell, 1999 - cell.com
Autosomal dominant periodic fever syndromes are characterized by unexplained episodes
of fever and severe localized inflammation. In seven affected families, we found six different …

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

SL Masters, A Simon, I Aksentijevich… - Annual review of …, 2009 - annualreviews.org
The autoinflammatory diseases are characterized by seemingly unprovoked episodes of
inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was …

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal‐onset multisystem inflammatory disease (NOMID): A …

I Aksentijevich, M Nowak, M Mallah… - Arthritis & …, 2002 - Wiley Online Library
Objective Neonatal‐onset multisystem inflammatory disease (NOMID; also known as chronic
infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, …

[HTML][HTML] An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist

I Aksentijevich, SL Masters, PJ Ferguson… - … England Journal of …, 2009 - Mass Medical Soc
Background Autoinflammatory diseases manifest inflammation without evidence of infection,
high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations …

[HTML][HTML] Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition

…, S Hill, ML Turner, BI Karp, I Aksentijevich… - … England Journal of …, 2006 - Mass Medical Soc
Background Neonatal-onset multisystem inflammatory disease is characterized by fever,
urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. …

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

GS Lee, N Subramanian, AI Kim, I Aksentijevich… - Nature, 2012 - nature.com
Mutations in the gene encoding NLRP3 cause a spectrum of autoinflammatory diseases
known as cryopyrin-associated periodic syndromes (CAPS) 1 . NLRP3 is a key component of …

Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study

…, PN Hawkins, I Touitou, I Aksentijevich… - Medicine …, 2005 - scholarship.miami.edu
Adolescent Adult Aged Aged, 80 and over Amyloidosis, Familial-etiology Child Child,
Preschool Colchicine-therapeutic use Epidemiologic Methods Familial Mediterranean Fever-…

[HTML][HTML] Early-onset stroke and vasculopathy associated with mutations in ADA2

…, M Boehm, DL Kastner, I Aksentijevich - … England Journal of …, 2014 - Mass Medical Soc
Background We observed a syndrome of intermittent fevers, early-onset lacunar strokes and
other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic …

[HTML][HTML] Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

…, WA Gahl, SM Burgess, I Aksentijevich… - … England Journal of …, 2020 - Mass Medical Soc
Background Adult-onset inflammatory syndromes often manifest with overlapping clinical
features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease…

[HTML][HTML] Autoinflammatory disease reloaded: a clinical perspective

DL Kastner, I Aksentijevich, R Goldbach-Mansky - Cell, 2010 - cell.com
Our understanding of the etiology of autoinflammatory disease is growing rapidly. Recent
advances offer new opportunities for therapeutic intervention and suggest that the definition …