Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus
出版年份 2016 全文链接
标题
Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus
作者
关键词
Type I IFN, Autoinflammatory, Autoimmune, Candle, SAVI, Interferonopathies
出版物
JOURNAL OF MOLECULAR MEDICINE-JMM
Volume 94, Issue 10, Pages 1111-1127
出版商
Springer Nature
发表日期
2016-09-27
DOI
10.1007/s00109-016-1465-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Autoantigens as Partners in Initiation and Propagation of Autoimmune Rheumatic Diseases
- (2016) Antony Rosen et al. Annual Review of Immunology
- Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity
- (2016) Vanja Sisirak et al. CELL
- Innate immune evasion strategies of DNA and RNA viruses
- (2016) Dia C Beachboard et al. CURRENT OPINION IN MICROBIOLOGY
- Ribonuclease H2 mutations induce a cGAS/STING‐dependent innate immune response
- (2016) Karen J Mackenzie et al. EMBO JOURNAL
- RNase H2 catalytic core Aicardi-Goutières syndrome–related mutant invokes cGAS–STING innate immune-sensing pathway in mice
- (2016) Vladislav Pokatayev et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy
- (2016) Justin Chia et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Neutrophil extracellular traps enriched in oxidized mitochondrial DNA are interferogenic and contribute to lupus-like disease
- (2016) Christian Lood et al. NATURE MEDICINE
- Clearance Deficiency and Cell Death Pathways: A Model for the Pathogenesis of SLE
- (2016) Aparna Mahajan et al. Frontiers in Immunology
- Early Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune Diseases
- (2016) Katherine E. Lintner et al. Frontiers in Immunology
- Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
- (2015) Mi-Ae Jang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
- (2015) Frank Rutsch et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1
- (2015) Yanick J. Crow et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Molecular Mechanisms in Genetically Defined Autoinflammatory Diseases: Disorders of Amplified Danger Signaling
- (2015) Adriana Almeida de Jesus et al. Annual Review of Immunology
- Unusual cutaneous features associated with a heterozygous gain-of-function mutation inIFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes
- (2015) A.-C. Bursztejn et al. BRITISH JOURNAL OF DERMATOLOGY
- CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature—a rare case with a novel mutation
- (2015) Miria Paula V. Cavalcante et al. EUROPEAN JOURNAL OF PEDIATRICS
- Human Disease Phenotypes Associated With Mutations in TREX1
- (2015) Gillian I. Rice et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
- (2015) Anja Brehm et al. JOURNAL OF CLINICAL INVESTIGATION
- Lymphocytic panniculitis: an algorithmic approach to lymphocytes in subcutaneous tissue
- (2015) Carolyn J Shiau et al. JOURNAL OF CLINICAL PATHOLOGY
- RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself
- (2015) B. J. Liddicoat et al. SCIENCE
- Dysfunction in protein clearance by the proteasome: impact on autoinflammatory diseases
- (2015) Anja Brehm et al. Seminars in Immunopathology
- RNA:DNA hybrids in the human genome have distinctive nucleotide characteristics, chromatin composition, and transcriptional relationships
- (2015) Julie Nadel et al. Epigenetics & Chromatin
- Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3′ Repair Exonuclease 1 (TREX1)
- (2015) Claudia Günther et al. JAMA Dermatology
- Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy
- (2015) Justine Munoz et al. JAMA Dermatology
- Stimulator of Interferon Genes-Associated Vasculitis of Infancy
- (2015) Ebun Omoyinmi et al. Arthritis & Rheumatology
- Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations
- (2014) Hirotsugu Oda et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SAMHD1 prevents autoimmunity by maintaining genome stability
- (2014) Stefanie Kretschmer et al. ANNALS OF THE RHEUMATIC DISEASES
- IL-1 Blockade in Autoinflammatory Syndromes
- (2014) Adriana A. Jesus et al. Annual Review of Medicine
- The role of dead cell clearance in the etiology and pathogenesis of systemic lupus erythematosus: dendritic cells as potential targets
- (2014) Mona HC Biermann et al. Expert Review of Clinical Immunology
- Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
- (2014) Claudia Günther et al. JOURNAL OF CLINICAL INVESTIGATION
- Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
- (2014) Nadia Jeremiah et al. JOURNAL OF CLINICAL INVESTIGATION
- Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
- (2014) Gillian I Rice et al. NATURE GENETICS
- Activated STING in a Vascular and Pulmonary Syndrome
- (2014) Yin Liu et al. NEW ENGLAND JOURNAL OF MEDICINE
- The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA
- (2014) Niamh M. Mannion et al. Cell Reports
- Cutaneous lupus erythematosus: Diagnosis and treatment
- (2013) L.G. Okon et al. BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
- Host Restriction Factor SAMHD1 Limits Human T Cell Leukemia Virus Type 1 Infection of Monocytes via STING-Mediated Apoptosis
- (2013) Alexandre Sze et al. Cell Host & Microbe
- A New Infant Case of Nakajo-Nishimura Syndrome with a Genetic Mutation in the Immunoproteasome Subunit: An Overlapping Entity with JMP and CANDLE Syndrome Related toPSMB8Mutations
- (2013) Kayo Kunimoto et al. DERMATOLOGY
- Macrophage Clearance of Neutrophil Extracellular Traps Is a Silent Process
- (2013) C. Farrera et al. JOURNAL OF IMMUNOLOGY
- Deregulated Type I IFN Response in TREX1-Associated Familial Chilblain Lupus
- (2013) Katrin Peschke et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations
- (2013) Amelia McDermott et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
- (2013) Gillian I Rice et al. LANCET NEUROLOGY
- Apoptosis and NET formation in the pathogenesis of SLE
- (2012) Yvette M. Bouts et al. AUTOIMMUNITY
- Autoimmunity Initiates in Nonhematopoietic Cells and Progresses via Lymphocytes in an Interferon-Dependent Autoimmune Disease
- (2012) Alevtina Gall et al. IMMUNITY
- Role of type I interferons in the activation of autoreactive B cells
- (2012) Kerstin Kiefer et al. IMMUNOLOGY AND CELL BIOLOGY
- Severe Chilblain Lupus Is Associated with Heterozygous Missense Mutations of Catalytic Amino Acids or their Adjacent Mutations in the Exonuclease Domains of 3′-Repair Exonuclease 1
- (2012) Kazumitsu Sugiura et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
- (2012) Gillian I Rice et al. NATURE GENETICS
- STING and the innate immune response to nucleic acids in the cytosol
- (2012) Dara L Burdette et al. NATURE IMMUNOLOGY
- Complement in the immunopathogenesis of rheumatic disease
- (2012) Gunnar Sturfelt et al. Nature Reviews Rheumatology
- Intracellular Protein Degradation: From a Vague Idea through the Lysosome and the Ubiquitin-Proteasome System and onto Human Diseases and Drug Targeting
- (2012) Aaron Ciechanover Neurodegenerative Diseases
- Proteins derived from neutrophil extracellular traps may serve as self-antigens and mediate organ damage in autoimmune diseases
- (2012) Jason S. Knight et al. Frontiers in Immunology
- Type I interferonopathies: a novel set of inborn errors of immunity
- (2011) Yanick J. Crow Annals of the New York Academy of Sciences
- Patients with systemic lupus erythematosus, myositis, rheumatoid arthritis and scleroderma share activation of a common type I interferon pathway
- (2011) B. W. Higgs et al. ANNALS OF THE RHEUMATIC DISEASES
- Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
- (2011) Yin Liu et al. ARTHRITIS AND RHEUMATISM
- Subcutaneous Recombinant Interferon-β-1a (Rebif®)
- (2011) Mark Sanford et al. DRUGS
- A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
- (2011) Akiko Kitamura et al. JOURNAL OF CLINICAL INVESTIGATION
- RNase H and Multiple RNA Biogenesis Factors Cooperate to Prevent RNA:DNA Hybrids from Generating Genome Instability
- (2011) Lamia Wahba et al. MOLECULAR CELL
- Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
- (2011) Tracy A Briggs et al. NATURE GENETICS
- Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
- (2011) Ekkehart Lausch et al. NATURE GENETICS
- Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
- (2011) Sulaiman M Al-Mayouf et al. NATURE GENETICS
- Type I interferon and Toll-like receptor expression characterizes inflammatory myopathies
- (2011) C. Cappelletti et al. NEUROLOGY
- Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
- (2011) K. Arima et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cytosolic DNA sensors regulating type I interferon induction
- (2011) Sinead E. Keating et al. TRENDS IN IMMUNOLOGY
- PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
- (2010) Anil K. Agarwal et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
- (2010) Jane C. Ravenscroft et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Type I interferon system activation and association with disease manifestations in systemic sclerosis
- (2010) M.-L. Eloranta et al. ANNALS OF THE RHEUMATIC DISEASES
- Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
- (2010) Georgia Ramantani et al. ARTHRITIS AND RHEUMATISM
- Autoinflammatory Disease Reloaded: A Clinical Perspective
- (2010) Daniel L. Kastner et al. CELL
- Nuclease deficiencies promote end-stage lupus nephritis but not nephritogenic autoimmunity in (NZB × NZW) F1 mice
- (2010) Silje Fismen et al. IMMUNOLOGY AND CELL BIOLOGY
- An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy
- (2010) Abhimanyu Garg et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Type I interferon: friend or foe?
- (2010) Giorgio Trinchieri JOURNAL OF EXPERIMENTAL MEDICINE
- C1q Deficiency Leads to the Defective Suppression of IFN- in Response to Nucleoprotein Containing Immune Complexes
- (2010) D. M. Santer et al. JOURNAL OF IMMUNOLOGY
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
- (2010) Antonio Torrelo et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Complement: a key system for immune surveillance and homeostasis
- (2010) Daniel Ricklin et al. NATURE IMMUNOLOGY
- Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome
- (2010) G. M. H. Abdel-Salam et al. NEUROPEDIATRICS
- Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome: A Case Report
- (2010) Yuval Ramot et al. PEDIATRIC DERMATOLOGY
- Impairment of neutrophil extracellular trap degradation is associated with lupus nephritis
- (2010) A. Hakkim et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mouse dendritic cells matured by ingestion of apoptotic blebs induce T cells to produce interleukin-17
- (2009) Justin H. Fransen et al. ARTHRITIS AND RHEUMATISM
- Remnants of secondarily necrotic cells fuel inflammation in systemic lupus erythematosus
- (2009) Luis E. Muñoz et al. ARTHRITIS AND RHEUMATISM
- Both early and late apoptotic blebs are taken up by DC and induce IL-6 production
- (2009) J. H. Fransen et al. AUTOIMMUNITY
- Aicardi-Goutieres syndrome
- (2009) S. Orcesi et al. BRITISH MEDICAL BULLETIN
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- (2009) Gillian I Rice et al. NATURE GENETICS
- Endosomal TLR signaling is required for anti-nucleic acid and rheumatoid factor autoantibodies in lupus
- (2009) D. H. Kono et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity
- (2008) Daniel B. Stetson et al. CELL
- Induction of inflammatory and immune responses by HMGB1–nucleosome complexes: implications for the pathogenesis of SLE
- (2008) Vilma Urbonaviciute et al. JOURNAL OF EXPERIMENTAL MEDICINE
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started