Type I interferon dysregulation and neurological disease

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

USP18 lack in microglia causes destructive interferonopathy of the mouse brain

(2015) T. Goldmann et al.   EMBO JOURNAL

Positive feedback regulation of type I interferon by the interferon-stimulated gene STING

(2015) F. Ma et al.   EMBO REPORTS

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

Neuropathology and Genetics of Cerebroretinal Vasculopathies

(2014) Grant R. Kolar et al.   BRAIN PATHOLOGY

RNA:DNA hybrids are a novel molecular pattern sensed by TLR9

(2014) R. E. Rigby et al.   EMBO JOURNAL

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

(2014) Claudia Günther et al.   JOURNAL OF CLINICAL INVESTIGATION

Upon Intranasal Vesicular Stomatitis Virus Infection, Astrocytes in the Olfactory Bulb Are Important Interferon Beta Producers That Protect from Lethal Encephalitis

(2014) Claudia N. Detje et al.   JOURNAL OF VIROLOGY

Systemic lupus erythematosus

(2014) Larissa Lisnevskaia et al.   LANCET

Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome in relapsing-remitting multiple sclerosis patients on high-dose interferon β

(2014) Catherine Larochelle et al.   Multiple Sclerosis Journal

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

Thrombotic Microangiopathy Associated with Interferon Beta

(2014) David Hunt 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

The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA

(2014) Niamh M. Mannion et al.   Cell Reports

Sifalimumab, a Human Anti-Interferon-α Monoclonal Antibody, in Systemic Lupus Erythematosus: A Phase I Randomized, Controlled, Dose-Escalation Study

(2013) Michelle Petri et al.   ARTHRITIS AND RHEUMATISM

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

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

Heterozygous TREX1 mutations in early-onset cerebrovascular disease

(2013) N. Pelzer et al.   JOURNAL OF 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

Distinct evolution process among type I interferon in mammals

(2013) Lei Xu et al.   Protein & Cell

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

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

Recognizable phenotypes associated with intracranial calcification

(2012) JOHN H LIVINGSTON et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2012) Alevtina Gall 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

TLR13 Recognizes Bacterial 23S rRNA Devoid of Erythromycin Resistance-Forming Modification

(2012) M. Oldenburg et al.   SCIENCE

Degos Disease

(2011) Cynthia M. Magro et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

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

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

Safety profile and clinical activity of sifalimumab, a fully human anti-interferon   monoclonal antibody, in systemic lupus erythematosus: a phase I, multicentre, double-blind randomised study

(2011) J. T. Merrill et al.   ANNALS OF THE RHEUMATIC DISEASES

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

(2011) B Namjou et al.   GENES AND IMMUNITY

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

(2011) Yiqi Guo et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A diverse range of gene products are effectors of the type I interferon antiviral response

(2011) John W. Schoggins et al.   NATURE

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

(2011) David C. Goldstone et al.   NATURE

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

An autoimmune disease prevented by anti-retroviral drugs

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

Interferon-stimulated genes and their antiviral effector functions

(2011) John W Schoggins et al.   Current Opinion in Virology

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

(2010) X.-F. Kong et al.   BLOOD

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

(2010) VENKATESWARAN RAMESH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Human MxA Protein: An Interferon-Induced Dynamin-Like GTPase with Broad Antiviral Activity

(2010) Otto Haller et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

Age-Dependent Mendelian Predisposition to Herpes Simplex Virus Type 1 Encephalitis in Childhood

(2010) Laurent Abel et al.   JOURNAL OF PEDIATRICS

Causes of encephalitis and differences in their clinical presentations in England: a multicentre, population-based prospective study

(2010) Julia Granerod et al.   LANCET INFECTIOUS DISEASES

Recommendations for clinical use of data on neutralising antibodies to interferon-beta therapy in multiple sclerosis

(2010) Chris H Polman et al.   LANCET NEUROLOGY

The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors

(2010) Taro Kawai et al.   NATURE IMMUNOLOGY

EVOLUTION OF A TUMOR-LIKE LESION IN CEREBRORETINAL VASCULOPATHY AND TREX1 MUTATION

(2010) F. J. Mateen et al.   NEUROLOGY

TREX1 gene variant in neuropsychiatric systemic lupus erythematosus

(2009) B. de Vries et al.   ANNALS OF THE RHEUMATIC DISEASES

Local Type I IFN Receptor Signaling Protects against Virus Spread within the Central Nervous System

(2009) C. N. Detje et al.   JOURNAL OF IMMUNOLOGY

Complement in human diseases: Lessons from complement deficiencies

(2009) Marina Botto et al.   MOLECULAR IMMUNOLOGY

STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity

(2009) Hiroki Ishikawa et al.   NATURE

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

(2009) Gillian I Rice et al.   NATURE GENETICS

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

(2009) Vesela Gateva et al.   NATURE GENETICS

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

(2009) Ivona Aksentijevich et al.   NEW ENGLAND JOURNAL OF MEDICINE

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

(2008) V. Navarro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nucleic acid-mediated inflammatory diseases

(2008) Rachel E. Rigby et al.   BIOESSAYS

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

Astrocytes produce interferon-alpha and CXCL10, but not IL-6 or CXCL8, in aicardi-Goutières syndrome

(2008) Jane T. Van Heteren et al.   GLIA

UNC93B1 delivers nucleotide-sensing toll-like receptors to endolysosomes

(2008) You-Me Kim et al.   NATURE

STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling

(2008) Hiroki Ishikawa et al.   NATURE

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci

(2008) John B Harley et al.   NATURE GENETICS

INTERFEROME: the database of interferon regulated genes

(2008) Shamith A. Samarajiwa et al.   NUCLEIC ACIDS RESEARCH