Type I interferon-mediated autoinflammation and autoimmunity.
Sign Up to like & getrecommendations! Published in 2017 at "Current opinion in immunology"
DOI: 10.1016/j.coi.2017.09.003
Abstract: The monogenic type I interferonopathies comprise a heterogenous group of disorders of the innate immune system associated with constitutive activation of antiviral type I interferon (IFN). Despite a remarkable phenotypic diversity, type I interferonopathies are… read more here.
Keywords: autoinflammation; type interferon; interferon mediated; autoimmunity ... See more keywords
Type I interferon-mediated autoinflammation due to DNase II deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-01932-3
Abstract: Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic acids as non-self and the induction of autoinflammation. By systematic screening using… read more here.
Keywords: autoinflammation; type interferon; interferon; due dnase ... See more keywords
No shortcuts: new findings reinforce why nuance is the rule in genetic autoinflammatory syndromes
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Rheumatology"
DOI: 10.1097/bor.0000000000000422
Abstract: Purpose of review Practitioners dazed by the evolving concept of autoinflammation are in good company. Despite the clinical challenges autoinflammatory patients present, their study has been fundamental to our understanding of basic human inflammation. This… read more here.
Keywords: reinforce nuance; autoinflammation; findings reinforce; nuance rule ... See more keywords
Nlrp3 inflammasome activation in macrophages suffices for inducing autoinflammation in mice
Sign Up to like & getrecommendations! Published in 2022 at "EMBO reports"
DOI: 10.15252/embr.202154339
Abstract: Cryopyrin‐associated periodic syndromes (CAPS) are a spectrum of autoinflammatory disorders caused by gain‐of‐function NLRP3 mutant proteins that form hyperactive inflammasomes leading to overproduction of the pro‐inflammatory cytokines IL‐1β and IL‐18. Expressing the murine gain‐of‐function Nlrp3A350V… read more here.
Keywords: activation macrophages; macrophages suffices; autoinflammation; inflammasome activation ... See more keywords
Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome
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DOI: 10.1542/peds.2016-3148
Abstract: Tocilizumab profoundly improved the inflammatory features of PHID and thus may be beneficial for PHID-associated autoinflammation. Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside… read more here.
Keywords: autoinflammation; phid syndrome; phid; tocilizumab treatment ... See more keywords
A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.998967
Abstract: There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations. This is imperative for patients who require precise… read more here.
Keywords: autoinflammation; within hours; rapid turnaround; panel ... See more keywords