Type I Interferonopathies in Children: An Overview

New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond

(2020) Erkan Demirkaya et al.   Journal of Clinical Medicine

Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

(2020) S. L. N. Clarke et al.   Pediatric Rheumatology

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

(2020) Marta Martin-Fernandez et al.   Cell Reports

Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome

(2020) Shaoling Zheng et al.   Frontiers in Immunology

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

(2020) Carolina Uggenti et al.   NATURE GENETICS

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

Efficacy of baricitinib in the treatment of chilblains associated with the type I interferonopathy Aicardi-Goutières syndrome

(2019) Kornvalee Meesilpavikkai et al.   Arthritis & Rheumatology

HDAC11 regulates type I interferon signaling through defatty-acylation of SHMT2

(2019) Ji Cao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Safety and tolerability of sifalimumab, an anti-interferon-α monoclonal antibody, in Japanese patients with systemic lupus erythematosus: A multicenter, phase 2, open-label study

(2019) Tsutomu Takeuchi et al.   Modern Rheumatology

Loss of USP18 in microglia induces white matter pathology

(2019) Marius Schwabenland et al.   Acta Neuropathologica Communications

Toward a better understanding of type I interferonopathies: a brief summary, update and beyond

(2019) Zhong-Xun Yu et al.   World Journal of Pediatrics

An Easy and Reliable Strategy for Making Type I Interferon Signature Analysis Comparable among Research Centers

(2019) Alessia Pin et al.   Diagnostics

Monogenic lupus: Dissecting heterogeneity

(2019) Ommar Omarjee et al.   AUTOIMMUNITY REVIEWS

Type I interferon (IFN)-inducible Absent in Melanoma 2 proteins in neuroinflammation: implications for Alzheimer’s disease

(2019) Divaker Choubey   Journal of Neuroinflammation

Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS)

(2019) Frédéric Ebstein et al.   Frontiers in Immunology

Interferon-β corrects massive gene dysregulation in multiple sclerosis: Short-term and long-term effects on immune regulation and neuroprotection

(2019) Xuan Feng et al.   EBioMedicine

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

(2019) Adriana A. de Jesus et al.   JOURNAL OF CLINICAL INVESTIGATION

Trial of Anifrolumab in Active Systemic Lupus Erythematosus

(2019) Eric F. Morand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Childhood vasculitis

(2019) Seza Ozen et al.   RHEUMATOLOGY

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

(2018) Gina A. Montealegre Sanchez et al.   JOURNAL OF CLINICAL INVESTIGATION

The cGAS–cGAMP–STING pathway connects DNA damage to inflammation, senescence, and cancer

(2018) Tuo Li et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Development of a Validated Interferon Score Using NanoString Technology

(2018) Hanna Kim et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

An Update on Autoinflammatory Diseases: Interferonopathies

(2018) Sophia Davidson et al.   Current Rheumatology Reports

Therapeutic Approaches to Type I Interferonopathies

(2018) Marc Bienias et al.   Current Rheumatology Reports

A Positive Feedback Amplifier Circuit That Regulates Interferon (IFN)-Stimulated Gene Expression and Controls Type I and Type II IFN Responses

(2018) Agata Michalska et al.   Frontiers in Immunology

SAMHD1 acts at stalled replication forks to prevent interferon induction

(2018) Flavie Coquel et al.   NATURE

Publisher Correction: A novel two-score system for interferon status segregates autoimmune diseases and correlates with clinical features

(2018) Y. M. El-Sherbiny et al.   Scientific Reports

Developmental roles of microglia: A window into mechanisms of disease

(2018) Sarah R. Anderson et al.   DEVELOPMENTAL DYNAMICS

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

(2018) Gillian I. Rice et al.   NEW ENGLAND JOURNAL OF MEDICINE

Monogenic Lupus: A Developing Paradigm of Disease

(2018) Jessie M. Alperin et al.   Frontiers in Immunology

Neuroinflammatory mechanisms of blood-brain barrier damage in ischemic stroke

(2018) Changjun Yang et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173

(2017) Jieun Seo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The molecular basis for differential type I interferon signaling

(2017) Gideon Schreiber   JOURNAL OF BIOLOGICAL CHEMISTRY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Microglial Interferon Signaling and White Matter

(2017) Ashley McDonough et al.   NEUROCHEMICAL RESEARCH

Genomics of Systemic Lupus Erythematosus

(2017) Linda T. Hiraki et al.   RHEUMATIC DISEASE CLINICS OF NORTH AMERICA

Pathogenesis of Human Systemic Lupus Erythematosus: A Cellular Perspective

(2017) Vaishali R. Moulton et al.   TRENDS IN MOLECULAR MEDICINE

The Interferon (IFN) Class of Cytokines and the IFN Regulatory Factor (IRF) Transcription Factor Family

(2017) Hideo Negishi et al.   Cold Spring Harbor Perspectives in Biology

Type I interferon-mediated autoinflammation due to DNase II deficiency

(2017) Mathieu P. Rodero et al.   Nature Communications

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

(2017) Erkan Demirkaya et al.   Arthritis & Rheumatology

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

(2016) Vanja Sisirak et al.   CELL

Fine-tuning of type I IFN-signaling in microglia — implications for homeostasis, CNS autoimmunity and interferonopathies

(2016) Tobias Goldmann et al.   CURRENT OPINION IN NEUROBIOLOGY

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome

(2016) Marco Cattalini 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

Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature

(2016) Y Bilginer et al.   LUPUS

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

(2016) Petro Starokadomskyy et al.   NATURE IMMUNOLOGY

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond

(2016) Yanick Crow et al.   NEUROPEDIATRICS

Type I interferonopathies in pediatric rheumatology

(2016) Stefano Volpi et al.   Pediatric Rheumatology

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

STING Activation by Translocation from the ER Is Associated with Infection and Autoinflammatory Disease

(2015) Nicole Dobbs et al.   Cell Host & Microbe

Type I interferonopathies: Mendelian type I interferon up-regulation

(2015) Yanick J Crow   CURRENT OPINION IN IMMUNOLOGY

ISG15 uncut: Dissecting enzymatic and non-enzymatic functions of USP18 in vivo

(2015) Lars Ketscher et al.   CYTOKINE

Immunogenetics of systemic lupus erythematosus: A comprehensive review

(2015) Yogita Ghodke-Puranik et al.   JOURNAL OF AUTOIMMUNITY

Human Disease Phenotypes Associated With Mutations in TREX1

(2015) Gillian I. Rice et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Phenotypic Variation in Aicardi–Goutières Syndrome Explained by Cell-Specific IFN-Stimulated Gene Response and Cytokine Release

(2015) Eloy Cuadrado et al.   JOURNAL OF IMMUNOLOGY

Endogenous IFN-β signaling exerts anti-inflammatory actions in experimentally induced focal cerebral ischemia

(2015) Ana R. Inácio et al.   Journal of Neuroinflammation

Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy

(2015) Justine Munoz et al.   JAMA Dermatology

Interferon-Stimulated Genes: A Complex Web of Host Defenses

(2014) William M. Schneider et al.   Annual Review of Immunology

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

(2014) Sterling C Eckard et al.   NATURE IMMUNOLOGY

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

(2014) Maha Zaki et al.   NEUROPEDIATRICS

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Brief Report: Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing

(2014) Julia I. Ellyard et al.   Arthritis & Rheumatology

Pattern Recognition and Signaling Mechanisms of RIG-I and MDA5

(2014) Stephanie Reikine et al.   Frontiers in Immunology

Epilepsy in Aicardi–Goutières syndrome

(2013) Georgia Ramantani et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Constitutive Type I Interferon Modulates Homeostatic Balance through Tonic Signaling

(2012) Daniel J. Gough et al.   IMMUNITY

Toll/Interleukin-1 Receptor Domain-Containing Adapter Inducing Interferon-  Mediates Microglial Phagocytosis of Degenerating Axons

(2012) S. Hosmane et al.   JOURNAL OF NEUROSCIENCE

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

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

(2011) B Namjou et al.   GENES AND IMMUNITY

Early age conductive hearing loss causes audiogenic seizure and hyperacusis behavior

(2011) Wei Sun et al.   HEARING RESEARCH

Type I Interferon and Systemic Lupus Erythematosus

(2011) Keith B. Elkon et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

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

An autoimmune disease prevented by anti-retroviral drugs

(2011) Gabriele B Beck-Engeser et al.   Retrovirology

Netting Neutrophils Are Major Inducers of Type I IFN Production in Pediatric Systemic Lupus Erythematosus

(2011) G. S. Garcia-Romo et al.   Science Translational Medicine

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

(2010) Russell C. Dale et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

(2010) Holger Thiele et al.   HUMAN MUTATION

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

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

(2010) Antonio Torrelo et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

(2009) Gillian I Rice et al.   NATURE GENETICS

DNase 1 and systemic lupus erythematosus

(2008) Fernando Martínez Valle et al.   AUTOIMMUNITY REVIEWS

Distinct and Nonredundant In Vivo Functions of IFNAR on Myeloid Cells Limit Autoimmunity in the Central Nervous System

(2008) Marco Prinz et al.   IMMUNITY

Signalling pathways leading to IFN-α production in human plasmacytoid dendritic cell and the possible use of agonists or antagonists of TLR7 and TLR9 in clinical indications

(2008) C. Guiducci et al.   JOURNAL OF INTERNAL MEDICINE