Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood

(2017) Glynis Frans et al.   JOURNAL OF ALLERGY AND CLINICAL 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

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature

(2016) D. Kavanagh et al.   BLOOD

AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies

(2016) Steffen Meyer et al.   CELL

Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation)

(2016) Cécile Picard et al.   CHEST

Ribonuclease H2 mutations induce a cGAS/STING‐dependent innate immune response

(2016) Karen J Mackenzie et al.   EMBO JOURNAL

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

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

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

(2016) Marco Cattalini 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

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

Loss of Trex1 in Dendritic Cells Is Sufficient To Trigger Systemic Autoimmunity

(2016) Katrin Peschke et al.   JOURNAL OF IMMUNOLOGY

Adjuvanted influenza-H1N1 vaccination reveals lymphoid signatures of age-dependent early responses and of clinical adverse events

(2016) Olga Sobolev 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

Interferon α kinoid induces neutralizing anti-interferon α antibodies that decrease the expression of interferon-induced and B cell activation associated transcripts: analysis of extended follow-up data from the interferon α kinoid phase I/II study

(2016) Julie Ducreux et al.   RHEUMATOLOGY

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

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

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

Type I interferonopathies: Mendelian type I interferon up-regulation

(2015) Yanick J Crow   CURRENT OPINION IN IMMUNOLOGY

USP18 lack in microglia causes destructive interferonopathy of the mouse brain

(2015) T. Goldmann et al.   EMBO JOURNAL

Isoforms of RNA-Editing Enzyme ADAR1 Independently Control Nucleic Acid Sensor MDA5-Driven Autoimmunity and Multi-organ Development

(2015) Kathleen Pestal et al.   IMMUNITY

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

Nucleic Acid–Sensing Receptors: Rheostats of Autoimmunity and Autoinflammation

(2015) Shruti Sharma et al.   JOURNAL OF IMMUNOLOGY

Cutting Edge: Inhibiting TBK1 by Compound II Ameliorates Autoimmune Disease in Mice

(2015) Maroof Hasan et al.   JOURNAL OF 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

Cutting Edge: Antimalarial Drugs Inhibit IFN-β Production through Blockade of Cyclic GMP-AMP Synthase–DNA Interaction

(2015) Jie An et al.   JOURNAL OF IMMUNOLOGY

Cutting Edge: cGAS Is Required for Lethal Autoimmune Disease in the Trex1-Deficient Mouse Model of Aicardi–Goutières Syndrome

(2015) Elizabeth E. Gray et al.   JOURNAL OF IMMUNOLOGY

Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

(2015) Yael Hacohen et al.   NEUROLOGY

Activation of cyclic GMP-AMP synthase by self-DNA causes autoimmune diseases

(2015) Daxing Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself

(2015) B. J. Liddicoat et al.   SCIENCE

Antiviral Protection via RdRP-Mediated Stable Activation of Innate Immunity

(2015) Meghan M. Painter et al.   PLoS Pathogens

Brief Report:IFIH1Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency

(2015) Lien Van Eyck et al.   Arthritis & Rheumatology

Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib

(2015) Ali Jabbari et al.   EBioMedicine

Aicardi–Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies

(2014) Eloy Cuadrado et al.   ANNALS OF THE RHEUMATIC DISEASES

Autoimmune Disorders Associated with Gain of Function of the Intracellular Sensor MDA5

(2014) Masahide Funabiki et al.   IMMUNITY

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

(2014) Nadia Jeremiah et al.   JOURNAL OF CLINICAL INVESTIGATION

Intrinsic Self-DNA Triggers Inflammatory Disease Dependent on STING

(2014) Jeonghyun Ahn et al.   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 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

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

(2014) Alexandre Belot et al.   Pediatric Rheumatology

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

(2013) R. Clifford et al.   BLOOD

Pharmacogenomics and Translational Simulations to Bridge Indications for an Anti-Interferon-α Receptor Antibody

(2013) B Wang et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

SAMHD1-dependent retroviral control and escape in mice

(2013) Jan Rehwinkel et al.   EMBO JOURNAL

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

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

Single Nucleotide Polymorphisms of Human STING Can Affect Innate Immune Response to Cyclic Dinucleotides

(2013) Guanghui Yi et al.   PLoS One

Mouse SAMHD1 Has Antiretroviral Activity and Suppresses a Spontaneous Cell-Intrinsic Antiviral Response

(2013) Rayk Behrendt et al.   Cell Reports

Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development

(2012) Martin A.M. Reijns et al.   CELL

Autoimmunity Initiates in Nonhematopoietic Cells and Progresses via Lymphocytes in an Interferon-Dependent Autoimmune Disease

(2012) Alevtina Gall et al.   IMMUNITY

Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity

(2012) Bjoern Hiller et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

(2012) Gillian I Rice et al.   NATURE GENETICS

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

(2012) J. Abe et al.   RHEUMATOLOGY

Type I interferonopathies: a novel set of inborn errors of immunity

(2011) Yanick J. Crow   Annals of the New York Academy of Sciences

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

An autoimmune disease prevented by anti-retroviral drugs

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

Autoinflammatory Disease Reloaded: A Clinical Perspective

(2010) Daniel L. Kastner et al.   CELL

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

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

Identification of Loss of Function Mutations in Human Genes Encoding RIG-I and MDA5

(2009) Taeko Shigemoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2009) Gillian I Rice et al.   NATURE GENETICS

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL