Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

ADAR1 regulates dsRNA formation in nuclear and mitochondrial transcripts through editing-dependent and -independent mechanisms.

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.

Identification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling.

Metformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells.

Cystatin F-a key player in central nervous system disease.

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.

The ability of SAMHD1-deficient monocytes to trigger the Type I IFN response depends on cGAS and mitochondrial DNA.

Alternative cGAS signaling promotes herpes simplex encephalitis.

French protocol for diagnosis and management of type 1 interferonopathies.

Repurposing oxiconazole to inhibit STING trafficking via OSBP and alleviate autoimmune pathology in Trex1-/- mice.

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

The induction of type I interferonopathy in Trex1-P212fs mice is mediated by activation of the cGAS-STING pathway.

The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.

Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.

Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.

The DNase TREX1 is a substrate of the intramembrane protease SPP with implications for disease pathogenesis.

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

[Aicardi-Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population].

Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.

Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.

Childhood-inherited white matter disorders with calcification.

cGAS activation in classical dendritic cells causes autoimmunity in TREX1-deficient mice.

An ADAR1 dsRBD3-PKR kinase domain interaction on dsRNA inhibits PKR activation.

Successful Electroconvulsive Therapy in Aicardi-Goutières Syndrome Presenting Psychiatric Symptoms: An Unprecedented Clinical Case.

Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.

Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.

Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population.

COL4A1-related disorder as a mimic of congenital TORCHES infection-Expanding the clinical, neuroimaging and genotype spectrum.

De novo variants in immune regulatory genes in Down syndrome regression disorder.

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.

SAMHD1 dysfunction induces IL-34 expression via NF-κB p65 in neuronal SH-SY5Y cells.

Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.

Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib.

LINE-1: an emerging initiator of cGAS-STING signalling and inflammation that is dysregulated in disease.

Aicardi-Goutières syndrome: A monogenic type I interferonopathy.

Generation of a new Adar1p150 -/- mouse demonstrates isoform-specific roles in embryonic development and adult homeostasis.

Aicardi-Goutières syndrome type 7 in a Chinese child: A case report.

Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).

Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications.

Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome.

Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.

[Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene].

The RNA-editing enzyme ADAR1: a regulatory hub that tunes multiple dsRNA-sensing pathways.

An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain.

Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner.

SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA.

Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutières syndrome type 5 due to biallelic SAMDH1 mutations.

A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.

Generation of induced pluripotent stem cell lines from two patients with Aicardi-Goutières syndrome type 1 due to biallelic TREX1 mutations.

Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.

ADAR1 averts fatal type I interferon induction by ZBP1.

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.

Genome Replication Is Associated With Release of Immunogenic DNA Waste.

Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.

SAMHD1 associates with inflammation and vasculitis in paediatric-onset systemic lupus erythematosus.

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.

Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.

RNA sensor MDA5 suppresses LINE-1 retrotransposition by regulating the promoter activity of LINE-1 5'-UTR.

Type I interferon-related kidney disorders.

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.

[Clinical characteristics of 25 patients with type Ⅰ interferonopathies].

An Aicardi-Goutières Syndrome-Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice.

Deciphering the Biological Significance of ADAR1-Z-RNA Interactions.

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.

Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi-Goutières syndrome.

ADAR1 interaction with Z-RNA promotes editing of endogenous double-stranded RNA and prevents MDA5-dependent immune activation.

Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain.

Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.

Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.

Opsoclonus-myoclonus in Aicardi-Goutières syndrome.

The role of RNA editing enzyme ADAR1 in human disease.

STING inhibitors target the cyclic dinucleotide binding pocket.

Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants.

RNA editing at a limited number of sites is sufficient to prevent MDA5 activation in the mouse brain.

Perillaldehyde Inhibition of cGAS Reduces dsDNA-Induced Interferon Response.

Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example.

G3BP1 Inhibition Alleviates Intracellular Nucleic Acid-Induced Autoimmune Responses.

Dual roles of SAMHD1 in tumor development and chemoresistance to anticancer drugs.

Collapsing Glomerulopathy as a Complication of Type I Interferon-Mediated Glomerulopathy in a Patient With RNASEH2B-Related Aicardi-Goutières Syndrome.

Different Clinical Manifestations of Three Prime Repair Exonuclease 1 Mutation: A Case Series.

Hepatic Involvement in Aicardi-Goutières Syndrome.

Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib.

Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.

Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.

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

RNases H1 and H2: guardians of the stability of the nuclear genome when supply of dNTPs is limiting for DNA synthesis.

Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors.

Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds.

Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1).

Adenosine-to-inosine RNA editing in the immune system: friend or foe?

Characterization of six recombinant human RNase H2 bearing Aicardi-Goutiéres syndrome causing mutations.

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

TREX1 variants in Sjogren's syndrome related lymphomagenesis.

Treatments in Aicardi-Goutières syndrome.

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.

JAK-inhibitors. New players in the field of immune-mediated diseases, beyond rheumatoid arthritis.

Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Goutières Syndrome, a Type I Interferonopathy.

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.

Aicardi goutières syndrome is associated with pulmonary hypertension.

SAMHD1 deficient human monocytes autonomously trigger type I interferon.

RNA/DNA structures recognized by RNase H2.

RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.

[An Aicardi-Goutières syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1].

Inhibition of Cyclic GMP-AMP Synthase Using a Novel Antimalarial Drug Derivative in Trex1-Deficient Mice.

SAMHD1 acts at stalled replication forks to prevent interferon induction.

Molecular dynamics characterization of the SAMHD1 Aicardi-Goutières Arg145Gln mutant: structural determinants for the impaired tetramerization.

LINE1 contributes to autoimmunity through both RIG-I- and MDA5-mediated RNA sensing pathways.

Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation.

A central role for PI3K-AKT signaling pathway in linking SAMHD1-deficiency to the type I interferon signature.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Suppressive oligodeoxynucleotides containing TTAGGG motifs inhibit cGAS activation in human monocytes.

Absence of RNase H2 triggers generation of immunogenic micronuclei removed by autophagy.

A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs.

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.

Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation.

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

AIM2-Like Receptors Positively and Negatively Regulate the Interferon Response Induced by Cytosolic DNA.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Type I interferon pathway in CNS homeostasis and neurological disorders.

Roles of SAMHD1 in antiviral defense, autoimmunity and cancer.

A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.

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

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

The AIM2-like Receptors Are Dispensable for the Interferon Response to Intracellular DNA.

Restriction by SAMHD1 Limits cGAS/STING-Dependent Innate and Adaptive Immune Responses to HIV-1.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Stiff person syndrome and other immune-mediated movement disorders - new insights.

Type I interferonopathies in pediatric rheumatology.

Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.

[Type I interferonopathies].

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

Typing TREX1 gene in patients with systemic lupus erythematosus.

Genetic analysis of leukocyte type-I interferon production and risk of coronary artery disease.

CyclinA2-Cyclin-dependent Kinase Regulates SAMHD1 Protein Phosphohydrolase Domain.

Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency.

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.