标题
Type I Interferonopathies: from a Novel Concept to Targeted Therapeutics
作者
关键词
-
出版物
Current Rheumatology Reports
Volume 22, Issue 7, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-06-16
DOI
10.1007/s11926-020-00909-4
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency
- (2020) Fahad Alsohime et al. NEW ENGLAND JOURNAL OF MEDICINE
- Self-Awareness: Nucleic Acid–Driven Inflammation and the Type I Interferonopathies
- (2019) Carolina Uggenti et al. Annual Review of Immunology
- Novel Proteasome Assembly Chaperone mutations in PSMG2/PAC2, cause the autoinflammatory interferonopathy, CANDLE/PRAAS4
- (2019) Adriana A. de Jesus et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Systemic Autoimmunity in a Patient With CANDLE Syndrome
- (2019) MA Yamazaki-Nakashimada et al. JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY
- Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome
- (2019) Stefano Volpi et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Tofacitinib in Amyopathic Dermatomyositis–Associated Interstitial Lung Disease
- (2019) Zhiwei Chen et al. NEW ENGLAND JOURNAL OF MEDICINE
- Ultrasensitive serum interferon-α quantification during SLE remission identifies patients at risk for relapse
- (2019) Alexis Mathian et al. ANNALS OF THE RHEUMATIC DISEASES
- Circulating interferon‐α measured with a highly sensitive assay as a biomarker for juvenile inflammatory myositis activity
- (2019) Isabelle Melki et al. Arthritis & Rheumatology
- Monogenic lupus: Dissecting heterogeneity
- (2019) Ommar Omarjee et al. AUTOIMMUNITY REVIEWS
- A clinical score to guide in decision making for monogenic type I IFNopathies
- (2019) Hafize Emine Sönmez et al. PEDIATRIC RESEARCH
- Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage
- (2019) Marie-Louise Frémond et al. THORAX
- Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases
- (2019) Adriana A. de Jesus et al. JOURNAL OF CLINICAL INVESTIGATION
- Regulation of cGAS- and RLR-mediated immunity to nucleic acids
- (2019) Andrea Ablasser et al. NATURE IMMUNOLOGY
- Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
- (2018) M. Cecilia Poli et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Comment on: ‘Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors’ by Giannelouet al: mutations inTRNT1result in a constitutive activation of type I interferon signalling
- (2018) Marie-Louise Frémond et al. ANNALS OF THE RHEUMATIC DISEASES
- JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis
- (2018) Leandro Ladislau et al. BRAIN
- Type I interferon pathway activation in COPA syndrome
- (2018) Stefano Volpi et al. CLINICAL IMMUNOLOGY
- Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L , clinical analysis and future prospects
- (2018) Patrice Bourgeois et al. HUMAN MUTATION
- Formation of COPI-coated vesicles at a glance
- (2018) Eric C. Arakel et al. JOURNAL OF CELL SCIENCE
- JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
- (2018) Gina A. Montealegre Sanchez et al. JOURNAL OF CLINICAL INVESTIGATION
- Development of a Validated Interferon Score Using NanoString Technology
- (2018) Hanna Kim et al. JOURNAL OF INTERFERON AND CYTOKINE RESEARCH
- Baricitinib for systemic lupus erythematosus: a double-blind, randomised, placebo-controlled, phase 2 trial
- (2018) Daniel J Wallace et al. LANCET
- Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING
- (2018) Hiroyasu Konno et al. Cell Reports
- A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy
- (2018) Rohit G. Saldanha et al. Frontiers in Immunology
- Is PNPT1 -related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1 -related disorders
- (2018) Alison Eaton et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- OUP accepted manuscript
- (2018) BRAIN
- Mitochondrial double-stranded RNA triggers antiviral signalling in humans
- (2018) Ashish Dhir et al. NATURE
- DDX58 and Classic Singleton-Merten Syndrome
- (2018) Carlos R. Ferreira et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features
- (2018) Angelo M Taveira-DaSilva et al. JOURNAL OF MEDICAL GENETICS
- Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
- (2018) Gillian I. Rice et al. NEW ENGLAND JOURNAL OF MEDICINE
- Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome
- (2017) Sanna Matilainen et al. HUMAN MOLECULAR GENETICS
- Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
- (2017) Isabelle Melki et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Detection of interferon alpha protein reveals differential levels and cellular sources in disease
- (2017) Mathieu P. Rodero et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
- (2017) Gillian Rice et al. NEUROPEDIATRICS
- Imaging findings of Copa syndrome in a 12-year-old boy
- (2017) Razan Noorelahi et al. PEDIATRIC RADIOLOGY
- Type I interferonopathy in a young adult
- (2017) Menelaos N. Manoussakis et al. RHEUMATOLOGY
- Type I interferon-mediated autoinflammation due to DNase II deficiency
- (2017) Mathieu P. Rodero et al. Nature Communications
- CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation
- (2017) Antonio Torrelo Frontiers in Immunology
- Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy
- (2016) Sarah L. N. Clarke et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Familial chilblain lupus due to a gain-of-function mutation in STING
- (2016) Nadja König et al. ANNALS OF THE RHEUMATIC DISEASES
- Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation)
- (2016) Cécile Picard et al. CHEST
- Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
- (2016) Ahmad Alodaib et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome
- (2016) Davide Tonduti et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
- (2016) Christina Lam et al. GENETICS IN MEDICINE
- Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children
- (2016) Marie-Louise Frémond et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
- (2016) Tracy A. Briggs et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease
- (2016) Timothy J. Vece et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease
- (2016) Gillian I. Rice et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
- (2016) Marije E.C. Meuwissen et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview
- (2016) Mathieu P. Rodero 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
- A human inborn error connects the α's
- (2016) Isabelle Meyts et al. NATURE IMMUNOLOGY
- DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis
- (2016) Petro Starokadomskyy et al. NATURE IMMUNOLOGY
- Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus
- (2016) Jie An et al. Arthritis & Rheumatology
- Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
- (2015) Mi-Ae Jang 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
- STING Activation by Translocation from the ER Is Associated with Infection and Autoinflammatory Disease
- (2015) Nicole Dobbs et al. Cell Host & Microbe
- Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects
- (2015) A.M. Slavotinek et al. CLINICAL GENETICS
- Type I interferonopathies: Mendelian type I interferon up-regulation
- (2015) Yanick J Crow CURRENT OPINION IN IMMUNOLOGY
- 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
- COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
- (2015) Levi B Watkin et al. NATURE GENETICS
- 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
- Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway
- (2014) Gregory M. Enns et al. GENETICS IN MEDICINE
- Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
- (2014) Nadia Jeremiah et al. JOURNAL OF CLINICAL INVESTIGATION
- Type I Interferon in the Pathogenesis of Lupus
- (2014) M. K. Crow JOURNAL OF IMMUNOLOGY
- Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
- (2014) Xianqin Zhang et al. NATURE
- 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
- The enemy within: endogenous retroelements and autoimmune disease
- (2014) Hannah E Volkman et al. NATURE IMMUNOLOGY
- The SKIV2L RNA exosome limits activation of the RIG-I-like receptors
- (2014) Sterling C Eckard et al. NATURE IMMUNOLOGY
- Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
- (2014) Qing Zhou et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
- (2014) Paulina Navon Elkan et al. NEW ENGLAND JOURNAL OF MEDICINE
- Activated STING in a Vascular and Pulmonary Syndrome
- (2014) Yin Liu et al. NEW ENGLAND JOURNAL OF MEDICINE
- X-linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature
- (2013) Lidia Pezzani et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Singleton-Merten syndrome: An autosomal dominant disorder with variable expression
- (2013) Annette Feigenbaum et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy
- (2013) C Troedson et al. LUPUS
- Organization of the ER–Golgi interface for membrane traffic control
- (2013) Federica Brandizzi et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
- (2012) Vanessa Vedrenne et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Mutation in PNPT1 , Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss
- (2012) Simon von Ameln et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The JAK-STAT Pathway at Twenty
- (2012) George R. Stark et al. IMMUNITY
- Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
- (2012) Gillian I Rice et al. NATURE GENETICS
- Mycobacterial Disease and Impaired IFN- Immunity in Humans with Inherited ISG15 Deficiency
- (2012) D. Bogunovic et al. SCIENCE
- Type I interferonopathies: a novel set of inborn errors of immunity
- (2011) Yanick J. Crow Annals of the New York Academy of Sciences
- 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
- A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
- (2011) Akiko Kitamura et al. JOURNAL OF CLINICAL INVESTIGATION
- 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
- A Vesicular Stomatitis Virus Replicon-Based Bioassay for the Rapid and Sensitive Determination of Multi-Species Type I Interferon
- (2011) Marianne Berger Rentsch et al. PLoS One
- 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
- 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
- Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis
- (2010) VENKATESWARAN RAMESH et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)
- (2010) Jane Louise Hartley et al. GASTROENTEROLOGY
- X-Linked reticulate pigmentary disorder in a female patient
- (2010) Byung Soo Kim et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- 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
- Interferon-Stimulated Gene 15 and the Protein ISGylation System
- (2010) Dongxian Zhang et al. JOURNAL OF INTERFERON AND CYTOKINE RESEARCH
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
- (2010) Antonio Torrelo et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Species-independent bioassay for sensitive quantification of antiviral type I interferons
- (2010) Thomas Kuri et al. Virology Journal
- Monocyte surface expression of Fcγ receptor RI (CD64), a biomarker reflecting type-I interferon levels in systemic lupus erythematosus
- (2010) Yi Li et al. ARTHRITIS RESEARCH & THERAPY
- C1q inhibits immune complex-induced interferon-α production in plasmacytoid dendritic cells: A novel link between C1q deficiency and systemic lupus erythematosus pathogenesis
- (2009) Christian Lood et al. ARTHRITIS AND RHEUMATISM
- Elevated serum interferon-α activity in juvenile dermatomyositis: Associations with disease activity at diagnosis and after thirty-six months of therapy
- (2009) Timothy B. Niewold et al. ARTHRITIS AND RHEUMATISM
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- (2009) Gillian I Rice et al. NATURE GENETICS
- Validation of a HeLa Mx2/Luc Reporter Cell Line for the Quantification of Human Type I Interferons
- (2009) Young-Jun Seo et al. PHARMACOLOGY
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