Aicardi-Goutières syndrome and the type I interferonopathies (Q34479620)

2 August 2017

1 reference

title

Aicardi-Goutières syndrome and the type I interferonopathies (English)

1 reference

2 August 2017

Nicolas Manel

2

0 references

Yanick J. Crow

object named as

Yanick J Crow

series ordinal

1

0 references

publication date

5 June 2015

1 reference

Nature Reviews Immunology

2 August 2017

1 reference

2 August 2017

15

1 reference

2 August 2017

7

1 reference

2 August 2017

429-440

1 reference

INTERFERON-INDUCED DISEASE IN MICE AND RATS

2 August 2017

1 reference

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

21 January 2018

1 reference

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy.

21 January 2018

1 reference

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

21 January 2018

1 reference

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

21 January 2018

1 reference

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

21 January 2018

1 reference

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

21 January 2018

1 reference

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

21 January 2018

1 reference

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

21 January 2018

1 reference

Familial systemic lupus erythematosus and congenital infection-like syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Type I interferonopathies: mendelian type I interferon up-regulation

21 January 2018

1 reference

DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration

21 January 2018

1 reference

DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88

21 January 2018

1 reference

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

21 January 2018

1 reference

The prevalence of computed tomographic abnormalities of the cerebrum in 100 consecutive children symptomatic with the human immune deficiency virus

21 January 2018

1 reference

21 January 2018

1 reference

Possible induction of systemic lupus erythematosus by interferon-α treatment in a patient with a malignant carcinoid tumour

21 January 2018

1 reference

Development of glaucoma in the course of interferon alpha therapy for chronic hepatitis B.

21 January 2018

1 reference

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

21 January 2018

1 reference

Trex1 prevents cell-intrinsic initiation of autoimmunity

21 January 2018

1 reference

Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease

21 January 2018

1 reference

Genetic syndromes mimic congenital infections

21 January 2018

1 reference

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

21 January 2018

1 reference

Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity

21 January 2018

1 reference

RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases

21 January 2018

1 reference

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

21 January 2018

1 reference

Cytosolic RNA:DNA hybrids activate the cGAS-STING axis

21 January 2018

1 reference

SAMHD1-dependent retroviral control and escape in mice.

21 January 2018

1 reference

Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response

21 January 2018

1 reference

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

21 January 2018

1 reference

SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx

21 January 2018

1 reference

The ribonuclease activity of SAMHD1 is required for HIV-1 restriction

21 January 2018

1 reference

ADAR1 is essential for the maintenance of hematopoiesis and suppression of interferon signaling

21 January 2018

1 reference

The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.

21 January 2018

1 reference

Double-stranded RNAs containing multiple IU pairs are sufficient to suppress interferon induction and apoptosis

21 January 2018

1 reference

Autoimmune disorders associated with gain of function of the intracellular sensor MDA5.

21 January 2018

1 reference

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

21 January 2018

1 reference

Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease

21 January 2018

1 reference

Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability

21 January 2018

1 reference

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

21 January 2018

1 reference

SAMHD1 prevents autoimmunity by maintaining genome stability

21 January 2018

1 reference

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

21 January 2018

1 reference

Evolution and impact of subclonal mutations in chronic lymphocytic leukemia

21 January 2018

1 reference

DNA-PK is a DNA sensor for IRF-3-dependent innate immunity.

21 January 2018

1 reference

Premature activation of the SLX4 complex by Vpr promotes G2/M arrest and escape from innate immune sensing

21 January 2018

1 reference

DNA damage primes the type I interferon system via the cytosolic DNA sensor STING to promote anti-microbial innate immunity

21 January 2018

1 reference

Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?

21 January 2018

1 reference

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

21 January 2018

1 reference

Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein

21 January 2018

1 reference

A cryptic sensor for HIV-1 activates antiviral innate immunity in dendritic cells

21 January 2018

1 reference

The capsids of HIV-1 and HIV-2 determine immune detection of the viral cDNA by the innate sensor cGAS in dendritic cells.

21 January 2018

1 reference

Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.

21 January 2018

1 reference

Automated genome-wide visual profiling of cellular proteins involved in HIV infection

21 January 2018

1 reference

The enemy within: endogenous retroelements and autoimmune disease

21 January 2018

1 reference

RETRACTED: MAVS, cGAS, and endogenous retroviruses in T-independent B cell responses

21 January 2018

1 reference

Human Genomics. Sleeping dogs of the genome

21 January 2018

1 reference

Type I interferon controls propagation of long interspersed element-1.

21 January 2018

1 reference

An autoimmune disease prevented by anti-retroviral drugs

21 January 2018

1 reference

Immune Interferon in the Circulation of Patients with Autoimmune Disease

21 January 2018

1 reference

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

21 January 2018

1 reference

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

21 January 2018

1 reference

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

21 January 2018

1 reference

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

21 January 2018

1 reference

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

21 January 2018

1 reference

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.

21 January 2018

1 reference

Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation

21 January 2018

1 reference

C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes

21 January 2018

1 reference

Activated STING in a vascular and pulmonary syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Intrinsic self-DNA triggers inflammatory disease dependent on STING.

21 January 2018

1 reference

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

21 January 2018

1 reference

Antiviral immunity via RIG-I-mediated recognition of RNA bearing 5'-diphosphates

21 January 2018

1 reference

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

21 January 2018

1 reference

USP18-based negative feedback control is induced by type I and type III interferons and specifically inactivates interferon α response

21 January 2018

1 reference

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

21 January 2018

1 reference

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

21 January 2018

1 reference

Immunoproteasomes are essential for survival and expansion of T cells in virus-infected mice

21 January 2018

1 reference

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

21 January 2018

1 reference

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

21 January 2018

1 reference

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C

21 January 2018

1 reference

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

21 January 2018

1 reference

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

21 January 2018

1 reference

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

21 January 2018

1 reference

A proposed classification of the immunological diseases

21 January 2018

1 reference

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

21 January 2018

1 reference

Apoptotic caspases suppress mtDNA-induced STING-mediated type I IFN production

21 January 2018

1 reference

High serum IFN-alpha activity is a heritable risk factor for systemic lupus erythematosus

21 January 2018

1 reference

Interferon-stimulated genes: roles in viral pathogenesis

21 January 2018

1 reference

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

21 January 2018

1 reference

Therapies in Aicardi-Goutières syndrome.

21 January 2018

1 reference

Oxidative damage of DNA confers resistance to cytosolic nuclease TREX1 degradation and potentiates STING-dependent immune sensing

21 January 2018

1 reference

Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome

21 January 2018

1 reference

C1q inhibits immune complex-induced interferon-alpha production in plasmacytoid dendritic cells: a novel link between C1q deficiency and systemic lupus erythematosus pathogenesis

31 March 2020

1 reference

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

31 March 2020

1 reference

Mitochondrial DNA stress primes the antiviral innate immune response

31 March 2020

1 reference

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

31 March 2020

1 reference

Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration.

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26052098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Necrotizing cutaneous lesions complicating treatment with pegylated-interferon alfa in an HIV-infected patient.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26052098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

CT and MR evaluation of intracranial involvement in pediatric HIV infection: a clinical-imaging correlation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26052098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRI3850

1 reference

2 August 2017

1 reference

PubMed ID

26052098