Search Results - "KASTNER, Daniel L"
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Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS
Published in Nature immunology (01-08-2016)“…Gain-of-function mutations in the gene encoding pyrin result in spontaneous autoinflammatory disease. Chae and colleagues detail a mechanism involving RhoA…”
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The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation
Published in Nature immunology (01-08-2017)“…Kastner and colleagues review monogenic autoinflammatory diseases and their molecular mechanisms and explore the overlap among autoinflammation, autoimmunity…”
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The Pyrin Inflammasome in Health and Disease
Published in Frontiers in immunology (07-08-2019)“…The pyrin inflammasome has evolved as an innate immune sensor to detect bacterial toxin-induced Rho guanosine triphosphatase (Rho GTPase)-inactivation, a…”
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Autoinflammatory Disease Reloaded: A Clinical Perspective
Published in Cell (19-03-2010)“…Our understanding of the etiology of autoinflammatory disease is growing rapidly. Recent advances offer new opportunities for therapeutic intervention and…”
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Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease ()
Published in Annual review of immunology (01-01-2009)“…The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T…”
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Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)
Published in The Journal of experimental medicine (14-03-2011)“…Reactive oxygen species (ROS) have an established role in inflammation and host defense, as they kill intracellular bacteria and have been shown to activate…”
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A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases
Published in Nature medicine (01-03-2015)“…A selective, small-molecule inhibitor of NLRP3 suppresses activation of the inflammasome in vitro and in vivo and attenuates inflammatory disease. The NOD-like…”
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The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome
Published in Cell host & microbe (14-09-2016)“…Pathogenic Yersinia, including Y. pestis, the agent of plague in humans, and Y. pseudotuberculosis, the related enteric pathogen, deliver virulence effectors…”
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Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed
Published in Annual review of genomics and human genetics (31-08-2016)“…Autoinflammatory diseases are inborn disorders of the innate immune system characterized by episodes of systemic inflammation that are mediated largely by…”
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Treatment Strategies for Deficiency of Adenosine Deaminase 2
Published in The New England journal of medicine (18-04-2019)“…The manifestations of a deficiency of adenosine deaminase 2, a genetic disease, include early-onset lacunar stroke. In a series of 15 patients with this…”
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Lighting the fires within: the cell biology of autoinflammatory diseases
Published in Nature reviews. Immunology (01-08-2012)“…Key Points Autoinflammatory diseases are marked by uncontrolled inflammation in the absence of autoantibodies or autoreactive T cell responses. The genetic…”
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Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
Published in Proceedings of the National Academy of Sciences - PNAS (06-09-2016)“…Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by…”
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NLRP1 Inflammasome Activation Induces Pyroptosis of Hematopoietic Progenitor Cells
Published in Immunity (Cambridge, Mass.) (14-12-2012)“…Cytopenias are key prognostic indicators of life-threatening infection, contributing to immunosuppression and mortality. Here we define a role for…”
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Prostaglandin E2 Inhibits NLRP3 Inflammasome Activation through EP4 Receptor and Intracellular Cyclic AMP in Human Macrophages
Published in The Journal of immunology (1950) (01-06-2015)“…PGE2 is a potent lipid mediator involved in maintaining homeostasis but also promotion of acute inflammation or immune suppression in chronic inflammation and…”
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Gain-of-Function Pyrin Mutations Induce NLRP3 Protein -Independent Interleukin-1β Activation and Severe Autoinflammation in Mice
Published in Immunity (Cambridge, Mass.) (27-05-2011)“…Missense mutations in the C-terminal B30.2 domain of pyrin cause familial Mediterranean fever (FMF), the most common Mendelian autoinflammatory disease…”
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Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B51 and ERAP1
Published in Nature genetics (01-02-2013)“…Daniel Kastner and colleagues report genome-wide association analyses for Behçet's disease, a condition characterized by episodic inflammation of the skin and…”
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Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
Published in Nature immunology (01-08-2020)“…Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous or compound heterozygous gain-of-function mutations in MEFV , which…”
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Genetics of monogenic autoinflammatory diseases: past successes, future challenges
Published in Nature reviews. Rheumatology (01-08-2011)“…Advances in genetic research and technology have provided great insights into the pathogenesis of inherited diseases of the innate immune system. In this…”
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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
Published in American journal of human genetics (05-10-2012)“…Whole-exome sequencing was performed in a family affected by dominantly inherited inflammatory disease characterized by recurrent blistering skin lesions,…”
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Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy
Published in British journal of haematology (01-09-2009)“…Summary Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder characterized by seemingly unprovoked recurrent episodes of fever and…”
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