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Interferonopathy

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https://www.readbyqxmd.com/read/27863149/cgas-expression-in-patients-with-systemic-lupus-erythematosus
#1
Jie An, Laura Durcan, Reynold M Karr, Tracy A Briggs, Gillian I Rice, Thomas H Teal, Joshua J Woodward, Keith B Elkon
OBJECTIVES Type I interferon (IFN-I) is implicated in the pathogenesis of Systemic Lupus Erythematosus (SLE) and 'interferonopathies' such as Aicardi-Goutieres Syndrome. A recently discovered DNA-activated IFN-I pathway, cyclic GMP-AMP (cGAMP) synthase (cGAS) is linked to AGS and mouse models of lupus. The aim of this study was to determine whether the cGAS pathway contributes to IFN-I production in SLE patients. METHODS SLE disease activity was measured by SELENA-SLEDAI. cGAS and interferon stimulated gene (ISG) mRNA expression was quantified by quantitative PCR ...
November 18, 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27821552/type-i-interferon-mediated-monogenic-autoinflammation-the-type-i-interferonopathies-a-conceptual-overview
#2
REVIEW
Mathieu P Rodero, Yanick J Crow
Type I interferon is a potent substance. As such, the induction, transmission, and resolution of the type I interferon-mediated immune response are tightly regulated. As defined, the type I interferonopathies represent discrete examples of a disturbance of the homeostatic control of this system caused by Mendelian mutations. Considering the complexity of the interferon response, the identification of further monogenic diseases belonging to this disease grouping seems likely, with the recognition of type I interferonopathies becoming of increasing clinical importance as treatment options are developed based on an understanding of disease pathology and innate immune signaling...
November 14, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27813878/antimalarial-drugs-as-immune-modulators-new-mechanisms-for-old-drugs
#3
Jie An, Mark Minie, Tomikazu Sasaki, Joshua J Woodward, Keith B Elkon
The best known of the naturally occurring antimalarial compounds are quinine, extracted from cinchona bark, and artemisinin (qinghao), extracted from Artemisia annua in China. These and other derivatives are now chemically synthesized and remain the mainstay of therapy to treat malaria. The beneficial effects of several of the antimalarial drugs (AMDs) on clinical features of autoimmune disorders were discovered by chance during WorldWar II. In this review, we discuss the chemistry of AMDs and their mechanisms of action, emphasizing how they may impact multiple pathways of innate immunity...
October 21, 2016: Annual Review of Medicine
https://www.readbyqxmd.com/read/27813875/the-type-i-interferonopathies
#4
Min Ae Lee-Kirsch
Type I interferons (IFNs) play a central role in the immune defense against viral infections. Type I IFN activation is induced by pattern-recognition receptors of the innate immune system that sense pathogen-derived nucleic acids. Cellular responses to type I IFN signaling are orchestrated by a complex network of regulatory pathways that involve both the innate and adaptive immune system. The genetic and molecular dissection of rare Mendelian disorders associated with constitutive overproduction of type I IFN has provided unique insight into cell-intrinsic disease mechanisms that initiate and sustain autoinflammation and autoimmunity and that are caused by disturbances in the intracellular nucleic acid metabolism or in cytosolic nucleic acid-sensing pathways...
November 2, 2016: Annual Review of Medicine
https://www.readbyqxmd.com/read/27697702/abnormal-regulation-of-the-antiviral-response-in-neurological-neurodegenerative-diseases
#5
Mannie Man Wai Lam, Jonathan P Mapletoft, Matthew S Miller
Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis are a few examples of debilitating neurological/neurodegenerative diseases for which there are currently no curative treatments. Recent evidence has strongly suggested a role for neuroinflammation in both the onset and progression of these diseases. However, the mechanisms that initiate neuroinflammation are presently unclear. Mounting evidence suggests that environmental factors are likely involved. One proposed mechanism linking both genetic and environmental factors is dysregulation of the antiviral response...
December 2016: Cytokine
https://www.readbyqxmd.com/read/27678529/insights-from-mendelian-interferonopathies-comparison-of-candle-savi-with-ags-monogenic-lupus
#6
REVIEW
Hanna Kim, Gina A Montealegre Sanchez, Raphaela Goldbach-Mansky
Autoinflammatory disorders are sterile inflammatory conditions characterized by episodes of early-onset fever and disease-specific patterns of organ inflammation. Recently, the discoveries of monogenic disorders with strong type I interferon (IFN) signatures caused by mutations in proteasome degradation and cytoplasmic RNA and DNA sensing pathways suggest a pathogenic role of IFNs in causing autoinflammatory phenotypes. The IFN response gene signature (IGS) has been associated with systemic lupus erythematosus (SLE) and other autoimmune diseases...
October 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/27659742/-type-i-interferonopathies-literature-review
#7
C Picard, A Belot
Thanks to the tremendous progress of genetics, a new field of inherited inflammatory disorders related to an overproduction of interferon has recently emerged. The so-called type I interferonopathies represent an heterogeneous group of Mendelian diseases presenting with various features starting in childhood, although the diagnosis can also be made later in life. Several clinical and biological characteristics are shared across these patients such as a positive interferon (IFN) signature and neurological and cutaneous involvement, some of which display organ specificity...
September 19, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27643693/neurologic-phenotypes-associated-with-mutations-in-trex1-rnaseh2a-rnaseh2b-rnaseh2c-samhd1-adar1-and-ifih1-aicardi-gouti%C3%A3-res-syndrome-and-beyond
#8
John H Livingston, Yanick J Crow
The Aicardi-Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cerebral atrophy, usually associated with a cerebrospinal fluid (CSF) pleocytosis and elevated CSF interferon α activity. It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7)...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27638338/nucleic-acid-mediated-autoinflammation-and-autoimmunity-type-i-interferonopathies
#9
Min Ae Lee-Kirsch, Claudia Günther, Axel Roers
No abstract text is available yet for this article.
October 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/27614846/cellular-and-molecular-mechanisms-of-immune-dysregulation-and-autoimmunity
#10
Gholamreza Azizi, Mohsen Rastegar Pouyani, Hassan Abolhassani, Laleh Sharifi, Majid Zaki Dizaji, Javad Mohammadi, Abbas Mirshafiey, Asghar Aghamohammadi
Primary immunodeficiencies (PIDs) constitute a large group of rare disorders that affect the function of the immune system. A specific group of PIDs entitled "diseases of immune dysregulation" are developed due to mutation in the genes which have critical roles in the regulation of immune responses and immunological tolerance. This group of PID patients develop autoimmune and inflammatory disorders as a result of their impaired immunity, therefore they could be considered as a model for analyzing the link between immune dysregulation and autoimmunity...
August 27, 2016: Cellular Immunology
https://www.readbyqxmd.com/read/27613991/severe-pulmonary-fibrosis-as-the-first-manifestation-of-interferonopathy-tmem173-mutation
#11
Cécile Picard, Guillaume Thouvenin, Caroline Kannengiesser, Jean-Christophe Dubus, Nadia Jeremiah, Frédéric Rieux-Laucat, Bruno Crestani, Alexandre Belot, Françoise Thivolet-Béjui, Véronique Secq, Christelle Ménard, Martine Reynaud-Gaubert, Philippe Reix
We report three cases of pulmonary disease suggesting fibrosis in two familial and one sporadic case. Pulmonary symptoms were associated with various clinical features of systemic inflammation and vasculitis involving the skin, and appeared at different ages. A strong interferon signature was found in all three cases. Disease was not responsive to corticosteroids, and lung transplantation was considered for all three subjects at an early age. One of them underwent double-lung transplantation, but she immediately experienced a primary graft dysfunction and died soon after...
September 2016: Chest
https://www.readbyqxmd.com/read/27554814/efficacy-of-the-janus-kinase-1-2-inhibitor-ruxolitinib-in-the-treatment-of-vasculopathy-associated-with-tmem173-activating-mutations-in-three-children
#12
Marie-Louise Frémond, Mathieu Paul Rodero, Nadia Jeremiah, Alexandre Belot, Eric Jeziorski, Darragh Duffy, Didier Bessis, Guilhem Cros, Gillian I Rice, Bruno Charbit, Anne Hulin, Nihel Khoudour, Consuelo Modesto Caballero, Christine Bodemer, Monique Fabre, Laureline Berteloot, Muriel Le Bourgeois, Philippe Reix, Thierry Walzer, Despina Moshous, Stéphane Blanche, Alain Fischer, Brigitte Bader-Meunier, Fréderic Rieux-Laucat, Yanick Joseph Crow, Bénédicte Neven
BACKGROUND: Gain-of-function mutations in TMEM173 encoding STING (Stimulator of Interferon Genes) underlie a novel type I interferonopathy. This disease is seemingly minimally responsive to conventional immunosuppressive therapies - and thus associated with high childhood morbidity and mortality. OBJECTIVE: Our aim was to describe the use of ruxolitinib, an oral Janus kinase (JAK) 1/2 inhibitor, in the treatment of vasculopathy associated with TMEM173-activating mutations...
August 20, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27494846/adar1-is-vital-for-b-cell-lineage-development-in-the-mouse-bone-marrow
#13
Victoria Marcu-Malina, Sanja Goldberg, Einav Vax, Ninette Amariglio, Itamar Goldstein, Gideon Rechavi
Adenosine deaminase acting on RNA (ADAR) 1 is the master editor of the transcriptome, catalyzing the conversion of adenosine to inosine (A-to-I). RNA transcripts fold into a variety of secondary structures including long intramolecular RNA duplexes that are the major substrate of ADAR1. Most A-to-I editing sites occur within RNA duplexes formed by complementary pairing of inverted retrotransposable elements interspersed within noncoding regions of transcripts. This catalytic activity of ADAR1 most likely prevents the abnormal activation of cytosolic nucleic acid sensors by self-dsRNAs...
August 2, 2016: Oncotarget
https://www.readbyqxmd.com/read/27475228/the-proteasome-victim-or-culprit-in-autoimmunity
#14
Eugen Feist, Gerd-Rüdiger Burmester, Elke Krüger
The ubiquitin proteasome system is closely connected to apoptosis, autophagy, signaling of inflammatory cytokines and generation of ligands for MHC class I antigen presentation. Proteasome function in the innate immune response becomes particularly evident in patients with proteasome-associated autoinflammatory syndromes (PRAAS), where disease causing mutations result in reduced proteasome activity. PRAAS can be classified as a novel type of interferonopathy, however the molecular mechanism and signaling pathways leading from impaired proteasome capacity, the accumulation of damaged proteins, and the induction of type I IFN-genes remain to be determined...
July 27, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27353409/therapeutic-potential-of-targeting-tbk1-in-autoimmune-diseases-and-interferonopathies
#15
REVIEW
Maroof Hasan, Nan Yan
The serine/threonine protein kinase, TBK1, plays a crucial role as the hub for many innate immune signaling pathways that lead to the induction of type I interferon (IFN) and interferon-stimulated genes (ISGs). Due to its key function in maintaining homeostasis of the immune system, cell survival and proliferation, TBK1 activity is tightly regulated. Dysregulation of TBK1 activity is often associated with autoimmune diseases and cancer, implicating the potential therapeutic benefit for targeting TBK1. Tremendous effort from both academic institutions and private sectors during the past few years has led to the development of many potent and selective TBK1 inhibitors, many of which have shown great promise in disease models in vivo...
September 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27325888/human-usp18-deficiency-underlies-type-1-interferonopathy-leading-to-severe-pseudo-torch-syndrome
#16
Marije E C Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert, Scott D Speer, Zhi Li, Leontine van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H Lequin, Johan M Kros, Wendy Stam, Mark Hermann, Rob Willemsen, Rutger W W Brouwer, Wilfred F J Van IJcken, Marta Martin-Fernandez, Irenaeus de Coo, Jeroen Dudink, Femke A T de Vries, Aida Bertoli Avella, Marco Prinz, Yanick J Crow, Frans W Verheijen, Sandra Pellegrini, Dusan Bogunovic, Grazia M S Mancini
Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent. Genetic defects resulting in activation of type 1 interferon (IFN) responses have been documented to cause Aicardi-Goutières syndrome, which is a cause of PTS. Ubiquitin-specific peptidase 18 (USP18) is a key negative regulator of type I IFN signaling. In this study, we identified loss-of-function recessive mutations of USP18 in five PTS patients from two unrelated families...
June 27, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27260006/type-i-interferonopathies-in-pediatric-rheumatology
#17
REVIEW
Stefano Volpi, Paolo Picco, Roberta Caorsi, Fabio Candotti, Marco Gattorno
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis...
2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27224741/rare-variants-autoimmune-disease-and-arthritis
#18
Sharon A Chung, Anthony K Shum
PURPOSE OF REVIEW: We review select studies of newly discovered rare variants in autoimmune diseases with a focus on newly described monogenic disorders, rheumatoid arthritis, and systemic lupus erythematosus. RECENT FINDINGS: Two new monogenic syndromes of inflammatory arthritis were discovered using whole exome sequencing: the coatomer subunit alpha syndrome because of rare mutations in coatomer subunit alpha and haploinsufficiency of A20 resulting from rare mutations in TNFAIP3...
July 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27044320/the-role-of-rna-editing-by-adar1-in-prevention-of-innate-immune-sensing-of-self-rna
#19
Jacki E Heraud-Farlow, Carl R Walkley
The innate immune system is the first line of the cellular defence against invading pathogens. A critical component of this defence is the capacity to discriminate foreign RNA molecules, which are distinct from most cellular RNAs in structure and/or modifications. However, a series of rare autoimmune/autoinflammatory diseases in humans highlight the propensity for the innate immune sensing system to be activated by endogenous cellular double-stranded RNAs (dsRNAs), underscoring the fine line between distinguishing self from non-self...
October 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/26993858/novel-interferonopathies-associated-with-mutations-in-rig-i-like-receptors
#20
Insa Buers, Yvonne Nitschke, Frank Rutsch
Type I interferonopathies are a relatively new class of inherited autoimmune disorders associated with an inborn elevated interferon response. Activation of cytosolic receptors which recognize viral double stranded RNA including the RIG-I (retinoic acid-inducible gene I) like receptors RIG-I and MDA5 (melanoma differentiation-associated gene 5) has been shown to induce the transcription of type I interferon genes. Within recent years, with the help of next generation sequencing techniques in syndromic families, mutations in the genes encoding for RIG-I and MDA5 have been identified to cause rare diseases including Aicardi-Goutières syndrome, Systemic Lupus Erythematosus in certain individuals as well as classic and atypical Singleton-Merten syndrome...
March 11, 2016: Cytokine & Growth Factor Reviews
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