A Síndrome de Aicardi-Goutières (AGS) é uma doença genética que afeta o cérebro e se manifesta aos poucos. Ela se caracteriza pela combinação de calcificação em regiões profundas do cérebro, alterações na substância branca cerebral e aumento de um tipo de glóbulo branco (linfócitos) no líquido que envolve o cérebro e a medula espinhal (LCR).
Introdução
O que você precisa saber de cara
A Síndrome de Aicardi-Goutières (AGS) é uma doença genética que afeta o cérebro e se manifesta aos poucos. Ela se caracteriza pela combinação de calcificação em regiões profundas do cérebro, alterações na substância branca cerebral e aumento de um tipo de glóbulo branco (linfócitos) no líquido que envolve o cérebro e a medula espinhal (LCR).
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<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 65 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 183 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes
Nucleus
Aicardi-Goutieres syndrome 3
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes
Nucleus
Aicardi-Goutieres syndrome 4
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks (PubMed:19525956, PubMed:21613998, PubMed:21720370, PubMed:22056990, PubMed:23601106, PubMed:23602554, PubMed:24336198, PubMed:26294762, PubMed:26431200, PubMed:28229507, PubMed:28834754, PubMed:29670289). Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activit
NucleusChromosome
Aicardi-Goutieres syndrome 5
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
Component of the U7 snRNP complex that is involved in the histone 3'-end pre-mRNA processing (PubMed:11574479, PubMed:16914750, PubMed:33230297). Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed (PubMed:11574479, PubMed:16914750). Required for cell cycle progression from G1 to S phases (By similarity). Binds specifically to the Sm-binding site of U7 snRNA (PubMed:11574479, PubMed:16914750)
Nucleus
Aicardi-Goutieres syndrome 8
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. AGS8 inheritance is autosomal recessive.
Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and pro-inflammatory cytokines (PubMed:28594402, PubMed:32169843, PubMed:33727702). Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length) (PubMed:22160685). Upon ligand binding it associates with mitochondria antiviral s
CytoplasmNucleusMitochondrion
Type 1 diabetes mellitus 19
A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing (PubMed:12618436, PubMed:7565688, PubMed:7972084). This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins since the translational machinery read the inosine as a guanosine; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing seque
CytoplasmNucleusNucleus, nucleolus
Dyschromatosis symmetrica hereditaria
An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal parts of the hands and feet, that appear in infancy or early childhood.
Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini (PubMed:10391904, PubMed:10393201, PubMed:17293595). Prevents cell-intrinsic initiation of autoimmunity (PubMed:10391904, PubMed:10393201, PubMed:17293595). Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements (PubMed:10391904, PubMed:10393201, PubMed:17293595). Plays a key role in degradation of DNA fragment
NucleusCytoplasm, cytosolEndoplasmic reticulum membrane
Aicardi-Goutieres syndrome 1
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes
Nucleus
Aicardi-Goutieres syndrome 2
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
Medicamentos e terapias
Mecanismo: Tyrosine-protein kinase JAK2 inhibitor
Variantes genéticas (ClinVar)
1,903 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 5,947 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
23 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Aicardi-Goutieres
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
7 ensaios clínicos encontrados.
Publicações mais relevantes
Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.
Adenosine-to-inosine RNA editing by ADAR1 prevents aberrant innate immunity activation by modifying endogenous double-stranded RNA. Mice carrying a left-handed double-stranded RNA (Z-RNA) binding-deficient mutation develop Aicardi-Goutières syndrome (AGS)-like encephalopathy, characterized by ventricular enlargement, gliosis, calcification, and white matter degeneration with a type I interferon (IFN) signature. However, the mechanisms underlying encephalopathy development remain unknown. Here, we show that pathology was most severe in periventricular regions where IFN-stimulated gene (ISG) expression was elevated and ependymal cells were lost, accompanied by higher IFN-α levels in cerebrospinal fluid than in sera. Blocking type I IFN signaling fully reversed these abnormalities, which was not achieved by deleting downstream PKR or ZBP1. Microglial elimination partially alleviated the encephalopathy without suppressing ISGs. In contrast, neuron- or astrocyte-specific ADAR1 dysfunction evoked robust ISG expression and recapitulated AGS-like encephalopathy, with astrocytic dysfunction causing particularly severe effects. These findings identify aberrant multicellular IFN signaling as the central driver of AGS-like encephalopathy.
ADAR1 regulates dsRNA formation in nuclear and mitochondrial transcripts through editing-dependent and -independent mechanisms.
Endogenous (self) double-stranded RNAs (dsRNAs) in human cells can activate innate immune responses. ADAR1, an A-to-I editing enzyme of dsRNAs, suppresses aberrant immune activation by self-dsRNAs. However, how ADAR1 influences the cellular dsRNA landscape remains unclear. We show that human ADAR1 downregulates self-dsRNA abundance through editing-dependent and editing-independent mechanisms. We further conducted quantitative dsRNA sequencing on wild-type and ADAR1-deficient cells. dsRNAs are enriched in protein-coding mRNAs-especially those with repetitive elements and elongated 3' UTRs-and mitochondrial RNAs. ADAR1-regulated dsRNA transcripts consist of nuclear-encoded mRNAs and, unexpectedly, mitochondria-encoded RNAs rarely edited by ADAR1. Accordingly, dsRNAs accumulate to high levels within the mitochondria of ADAR1-deficient cells. Mass spectrometry and biochemical assays can detect ADAR1p150 in mitochondrial fractions. Notably, ADAR1 loss sensitizes cells to inflammation under mitochondrial stress (e.g., herniation and X-ray irradiation). Hence, we show that dsRNAs regulated by ADAR1 go beyond A-to-I edited transcripts and that ADAR1 can control mitochondrial dsRNAs.
Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.
Aicardi-Goutières syndrome (AGS) is a genetic type I interferon (IFN)-mediated disease characterized by neurological involvement with onset in utero or in childhood. Here, we analyze peripheral blood samples from patients bearing AGS-causing mutations in ADAR1, RNASEH2B or SAMHD1 using single-cell transcriptomics and targeted metabolomics. Using machine-learning approaches and differential gene expression analysis, we identified a loss of transcription factor hypoxia induced factor 1 α (HIF-1α) expression and activity associated with features of a metabolic switch favoring oxidative phosphorylation and glutathione metabolism over glycolysis in monocytes and dendritic cells. Evidences of mitochondrial stress and accumulation of cytosolic double-stranded DNA and RNA were also found. The energy metabolic switch was confirmed at the metabolic level in primary peripheral blood mononuclear cells of AGS patients. Chemical stabilization of HIF-1α using a synthetic drug in in vitro cellular models of AGS, reversed the energy metabolic switch towards glycolysis, attenuated mitochondrial stress, and markedly reduced the IFN response and IP-10 production. We therefore propose that an energy metabolic switch contributes to chronic inflammation in AGS and that targeting this pathway might represent a potential therapeutic approach.
Heterozygous ADAR mutant mice exhibit RNA sensing-dependent neuroinflammation and phenotypes associated with Aicardi-Goutières syndrome.
The ADAR G1007R mutation is frequently found in type six Aicardi-Goutières syndrome (AGS), a severe inflammatory encephalopathy in pediatric patients, and is distinct in having a phenotype in heterozygotes. To define the mechanisms underlying this disease, we developed an ADAR G1007 heterozygous mouse model that recapitulates the genetic and inflammatory features of individuals with ADAR G1007R AGS. These mice exhibited increased astrocytosis and microgliosis and interferon-stimulated gene (ISG) expression within deep brain areas. Additionally, brain inflammation was reversed by deletion of MDA5, which blocks cellular RNA sensing. Analysis of embryonic RNAs show the G1007R mutation also interrupts the splicing donor site in RNA transcripts, thereby altering ADAR1 RNA splicing and depleting the ADAR1 protein. Collectively, this study reports an animal model for AGS manifesting a heterozygous phenotype, reveals molecular defects associated with the ADAR G1007R mutation, and demonstrates that MDA5-dependent RNA sensing contributes to neuroinflammation.
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.
RNA polymerase III-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, neurodegenerative, brain white matter disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Due to the complex and progressive nature of this disorder, parents and siblings of patients face many potential challenges and stressors. We, therefore, sought to explore parents' and siblings' experiences to understand their specific needs and identify modifiable factors to limit familial burden and improve their quality of life. We conducted semistructured interviews with parents and siblings of patients with POLR3-HLD. Interview questions focused on the financial, emotional, and psychosocial impacts on parents, as well as siblings' relationship with their affected sibling and the psychosocial impacts they may have experienced. All interviews were recorded, transcribed, and analyzed using reflexive thematic analysis. Through the coding process, themes surrounding the impact on and experiences of parents and siblings were developed. Nineteen semistructured interviews with 24 parents and nine interviews with 9 siblings were completed between March and October 2023 and February and May 2024, respectively. Four themes from parent interviews included extensive caregiver burden, emotional and psychosocial challenges, the importance of parental self-health, and comfort in the leukodystrophy community. Three themes from sibling interviews included the spectrum of emotional impacts, limited knowledge about POLR3-HLD, and adapting to their sibling's needs. This study provides a comprehensive understanding of the family experience, identifying the common challenges and specific needs of parents and siblings, highlighting areas of improvement in the global care offered to this vulnerable patient population.
Publicações recentes
Spastic Hip Dislocation in a Child With Aicardi-Goutières Syndrome: A Case Report.
📖 RevisãoPTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant.
First case of TREX1 mutation-driven retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations coexisting with lupus nephritis: a case report and mechanistic discussion.
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.
📚 EuropePMC379 artigos no totalmostrando 196
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.
Molecular genetics and metabolismAberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.
Cell reportsAicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.
AJNR. American journal of neuroradiologyADAR1 regulates dsRNA formation in nuclear and mitochondrial transcripts through editing-dependent and -independent mechanisms.
Cell reportsContext-dependent effects of adaptive immunity on IFN-α-mediated neurotoxicity in Aicardi-Goutières syndrome.
Neurobiology of diseasePharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.
Nature communicationsAicardi-Goutières Syndrome Type 3 with Persistent Hypertriglyceridemia: A Novel Association.
Indian journal of pediatricsGut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.
Clinical & translational immunologyHeterozygous ADAR mutant mice exhibit RNA sensing-dependent neuroinflammation and phenotypes associated with Aicardi-Goutières syndrome.
iScienceA novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).
Molecular genetics and metabolismAicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.
Clinical immunology (Orlando, Fla.)Microglia replacement by ER-Hoxb8 conditionally immortalized macrophages provides insight into Aicardi-Goutières syndrome neuropathology.
eLifeBasic Microglial Functions and How They Go Awry in Neurodegenerative Disease.
Annual review of pathologyMonogenic and SLE-like disorders in the pediatric population: insights from a Northern Israel cohort.
LupusThe Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.
Pediatric neurologyOne mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.
Rheumatology (Oxford, England)The intersection of TREX1, cGAS, STING and the DNA damage theory of aging.
Frontiers in agingSelective depletion of tumor-associated SAMHD1 enhances chemotherapeutic efficacy and antitumor immune responses.
Signal transduction and targeted therapyDiscovery of isoindoline-2(1H)-carboxamide STING inhibitors as anti-inflammatory agents.
Molecular diversityGeneration of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).
Stem cell researchMonogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape.
Neurology. GeneticsTriazole-based STING inhibitors.
Bioorganic & medicinal chemistryChronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.
Experimental neurologyDiscordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.
Pediatric rheumatology online journalUpdate on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.
Pediatric rheumatology online journalNewborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.
International journal of neonatal screening[Aicardi-Goutières syndrome with atypical presentation: RNASEH2B gene mutation in an infant without microcephaly or intracranial calcifications (a case report)].
The Pan African medical journalMimickers of Systemic Lupus Erythematosus: Case Series and Literature Overview.
Journal of clinical medicineDiscovery of a potent and orally bioavailable 3,3-dimethyl-2-oxoindoline STING inhibitor.
European journal of medicinal chemistryMyasthenia Gravis as a Manifestation of Aicardi-Goutières Syndrome Due to a SAMHD1 Variant Successfully Treated With Baricitinib.
CureusIdentification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling.
Journal of clinical immunologyNitrofuran-Based STING Inhibitors.
ACS omegaMicrogliosis and aberrant interferon response in Adar Mavs brain are rescued by PKR removal.
Brain : a journal of neurologyMetformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells.
GenesUnravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.
BMJ case reportsCystatin F-a key player in central nervous system disease.
Journal of neuroinflammationClinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.
Pediatric neurologyFamilial Cases of Aicardi-Goutières Syndrome Presenting With Cutaneous Manifestations of Facial Lipodystrophy and Puffy Digits.
The Journal of dermatologyCase Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.
Frontiers in immunologyRecurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic RNASEH2B Variant.
Annals of clinical and laboratory scienceDual pathology of parvovirus B19 infection and Aicardi-Goutières syndrome complicating non-immune hydrops fetalis.
BMJ case reportsYield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy.
Pediatric neurologyATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome.
Developmental medicine and child neurologyADAR1: Beyond Just an RNA Editor.
Annual review of cell and developmental biologyDiscovery of 3,4-dihydroisoquinoline-2(1H)-carboxamide STING inhibitors as anti-inflammatory agents.
European journal of medicinal chemistryDeep Brain Stimulation in a Child with Aicardi-Goutières Syndrome-7 (AGS7): A Case Report and Literature Review.
Movement disorders clinical practiceKDM4B enhances immune surveillance via demethylating cGAS.
Cell death & diseaseThe ability of SAMHD1-deficient monocytes to trigger the Type I IFN response depends on cGAS and mitochondrial DNA.
The Journal of biological chemistryUSP8-Governed MDA5 Homeostasis Promotes Innate Immunity and Autoimmunity.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Neuroglial Pathophysiology of Leukodystrophies.
Advances in neurobiologyMoyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report.
Pediatric radiologyAlternative cGAS signaling promotes herpes simplex encephalitis.
Proceedings of the National Academy of Sciences of the United States of AmericaTalents Amidst Neurological Impairment; an Interesting Case of Aicardi-Goutières Syndrome.
Clinical case reportsExperiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.
Journal of child neurologyAicardi-Goutières syndrome as a rare cause of neonatal intracranial calcifications.
Archives of disease in childhood. Fetal and neonatal editionFrench protocol for diagnosis and management of type 1 interferonopathies.
La Revue de medecine interneExploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.
Journal of child neurologyRepurposing oxiconazole to inhibit STING trafficking via OSBP and alleviate autoimmune pathology in Trex1-/- mice.
International immunopharmacologyNew Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceThe induction of type I interferonopathy in Trex1-P212fs mice is mediated by activation of the cGAS-STING pathway.
International journal of biological macromoleculesThe Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.
Developmental neurobiologyOverlap Diagnostic Odyssey and Full Mouth Rehabilitation of a Juvenile Patient With IFIH1-Related Disorder: A Case of Aicardi-Goutières and Singleton Merten Syndromes Overlap.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryPharmacological evaluation of drug therapies in Aicardi-Goutières syndrome: insights from patient-derived neural stem cells.
Frontiers in pharmacologyTofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.
Orphanet journal of rare diseasesDelayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report.
CureusPetroselinic Acid from Apiaceae Family Plants Ameliorates Autoimmune Disorders Through Suppressing Cytosolic-Nucleic-Acid-Mediated Type I Interferon Signaling.
BiomoleculesNeuroglia in leukodystrophies.
Handbook of clinical neurologyOverlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.
Immunological medicinePOLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.
Pediatric neurologyBiochemical profiling and structural basis of ADAR1-mediated RNA editing.
Molecular cellThe DNase TREX1 is a substrate of the intramembrane protease SPP with implications for disease pathogenesis.
Cellular and molecular life sciences : CMLSTwo rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.
Frontiers in immunologyShort-term efficacy of tofacitinib, a JAK inhibitor, in IFIH1-related Aicardi-Goutières syndrome.
European journal of medical geneticsAutoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
The Lancet. NeurologyEULAR/ACR classification criteria for paediatric chronic nonbacterial osteomyelitis (CNO).
Annals of the rheumatic diseases[Aicardi-Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaA 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome.
The journal of allergy and clinical immunology. GlobalThe c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan Families.
American journal of medical genetics. Part AIncreased 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).
Pediatric rheumatology online journalMouse models for understanding physiological functions of ADARs.
Methods in enzymologyCorrigendum: A zebrafish model of Ifih1-driven Aicardi-Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients.
Frontiers in immunologyReverse transcriptase inhibitors in Aicardi-Goutières syndrome: Design and regulatory challenges in clinical trials for rare disease.
Developmental medicine and child neurologyA Wonderful Journey: The Diverse Roles of Adenosine Deaminase Action on RNA 1 (ADAR1) in Central Nervous System Diseases.
CNS neuroscience & therapeuticsBaricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.
American journal of medical genetics. Part ABilateral striatal necrosis in a case with ADAR1-related Aicardi Goutières Syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatric rheumatology online journalReverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial.
Developmental medicine and child neurologyExploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.
Expert opinion on emerging drugsClinico-Radiological Mimics and Outcome of Intrauterine TORCH Infection and Aicardi-Goutieres Syndrome; Pseudo-TORCH from a Tertiary Care Centre in South India.
Indian journal of pediatricsEmerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.
Nature reviews. RheumatologyThe prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Immunological reviewsAn overview of genetic mutations in Aicardi-Goutières syndrome in Iranian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyWhole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.
Scandinavian journal of immunologyNeurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Pediatric investigationSystemic complications of Aicardi Goutières syndrome using real-world data.
Molecular genetics and metabolismChildhood-inherited white matter disorders with calcification.
Handbook of clinical neurologycGAS activation in classical dendritic cells causes autoimmunity in TREX1-deficient mice.
Proceedings of the National Academy of Sciences of the United States of AmericaSecond generation lethality in RNAseH2a knockout zebrafish.
Nucleic acids researchA case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.
Human genome variationAn ADAR1 dsRBD3-PKR kinase domain interaction on dsRNA inhibits PKR activation.
Cell reportsInterferonopathies: From concept to clinical practice.
Best practice & research. Clinical rheumatologySuccessful Electroconvulsive Therapy in Aicardi-Goutières Syndrome Presenting Psychiatric Symptoms: An Unprecedented Clinical Case.
The journal of ECTChildren With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
The Journal of rheumatologyAicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.
Iranian journal of child neurologyMonogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population.
Clinical and experimental rheumatologyDe novo variants in immune regulatory genes in Down syndrome regression disorder.
Journal of neurologyIFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.
JCI insightThe brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies.
ImmunityDistinct features of ribonucleotides within genomic DNA in Aicardi-Goutières syndrome ortholog mutants of Saccharomyces cerevisiae.
iScienceNonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.
NeurologySoluble form of the MDA5 protein in human sera.
HeliyonT-Rex escaped from the cytosolic park: Re-thinking the impact of TREX1 exonuclease deficiencies on genomic stability.
BioEssays : news and reviews in molecular, cellular and developmental biologyMutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.
Human molecular geneticsThe Sixth Sense: Self-nucleic acid sensing in the brain.
Advances in immunologyNeurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.
NeuropediatricsIndomethacin restrains cytoplasmic nucleic acid-stimulated immune responses by inhibiting the nuclear translocation of IRF3.
Journal of molecular cell biologyPseudo-catatonia and Acral Degos-like Lesions: An Atypical Form of the Aicardi-Goutières Syndrome.
Actas dermo-sifiliograficasCharacterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
Journal of child neurologyCorrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.
Frontiers in neurologyNOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
International journal of molecular sciencesPreimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
Journal of assisted reproduction and geneticsIntracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
American journal of medical genetics. Part ANucleotide metabolism, leukodystrophies, and CNS pathology.
Journal of inherited metabolic diseaseLeukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Medical sciences (Basel, Switzerland)Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome.
Journal of clinical immunologySystematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
Molecular genetics and metabolismSAMHD1 dysfunction induces IL-34 expression via NF-κB p65 in neuronal SH-SY5Y cells.
Molecular immunologyInterferon-α receptor antisense oligonucleotides reduce neuroinflammation and neuropathology in a mouse model of cerebral interferonopathy.
The Journal of clinical investigationCharacterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.
Genes & diseasesProgress in leukodystrophies with zebrafish.
Development, growth & differentiationLicochalconeB inhibits cGAS-STING signaling pathway and prevents autoimmunity diseases.
International immunopharmacologyImpact of Disease-Associated Mutations on the Deaminase Activity of ADAR1.
BiochemistryGeneration of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.
Stem cell researchTREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.
American journal of medical genetics. Part ATREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids.
Molecular psychiatryA zebrafish model of Ifih1-driven Aicardi-Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients.
Frontiers in immunologySAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
American journal of medical genetics. Part AAicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.
Journal of personalized medicineSTING signaling in the brain: Molecular threats, signaling activities, and therapeutic challenges.
NeuronAicardi-Goutières Syndrome (AGS) Presenting with Psoriasis.
Indian journal of pediatricsDistinct features of ribonucleotides within genomic DNA in Aicardi-Goutières syndrome (AGS)-ortholog mutants of Saccharomyces cerevisiae.
bioRxiv : the preprint server for biologyLong 3'UTRs predispose neurons to inflammation by promoting immunostimulatory double-stranded RNA formation.
Science immunologyRapidly progressive moyamoya vasculopathy stabilized with immunotherapy in aicardi-goutières syndrome.
Journal of neurologyEfficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study.
Pediatric rheumatology online journalTocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib.
Pediatric rheumatology online journalType I Interferonopathies: A Clinical Review.
Rheumatic diseases clinics of North AmericaSynthetic lethal mutants in Escherichia coli define pathways necessary for survival with RNase H deficiency.
Journal of bacteriologyDyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome.
Pediatric dermatologyNovel insights into double-stranded RNA-mediated immunopathology.
Nature reviews. ImmunologyMulti-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.
Biochemical geneticsPatients on the Transplant Waiting List Have Anti-Swine Leukocyte Antigen Class I Antibodies.
ImmunoHorizonsDevelopment of LB244, an Irreversible STING Antagonist.
Journal of the American Chemical SocietyInhibitors of Stimulator of Interferon Genes from 2019 to July 2022: An Overview of the Structure and Bioactivity.
Current drug targetsLINE-1: an emerging initiator of cGAS-STING signalling and inflammation that is dysregulated in disease.
Biochemistry and cell biology = Biochimie et biologie cellulaireSubacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.
Brain sciencesBiochemical functions and structure of Caenorhabditis elegans ZK177.8 protein: Aicardi-Goutières syndrome SAMHD1 dNTPase ortholog.
The Journal of biological chemistryTreatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.
Clinical case reportsAicardi-Goutières syndrome: A monogenic type I interferonopathy.
Scandinavian journal of immunologyExploration of Gross Motor Function in Aicardi-Goutières Syndrome.
Journal of child neurologyIn Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population.
CureusADAR1 Zα domain P195A mutation activates the MDA5-dependent RNA-sensing signaling pathway in brain without decreasing overall RNA editing.
Cell reportsJuvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report.
BiomedicinesAicardi-Goutières syndrome presenting with pneumocystis jirovecii pneumonia.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyRosmarinic acid ameliorates autoimmune responses through suppression of intracellular nucleic acid-mediated type I interferon expression.
Biochemical and biophysical research communications[Establishment of induced pluripotent stem cell model of Aicardi-Goutières Syndrome mutated in TREX1].
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]IFIH1 and DDX58 gene variants in pediatric rheumatic diseases.
World journal of clinical pediatricsA case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant.
Revue neurologiqueConstruction and characterization of ribonuclease H2 C subunit-knockout NIH3T3 cells.
Bioscience, biotechnology, and biochemistryGeneration of a new Adar1p150 -/- mouse demonstrates isoform-specific roles in embryonic development and adult homeostasis.
RNA (New York, N.Y.)Preimplantation genetic testing for Aicardi-Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth.
Molecular cytogeneticsAicardi-Goutières syndrome and dyschromatosis symmetrica hereditaria due to compound heterozygous mutation of ADAR1, presentation of two cases.
International journal of dermatologyJAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Journal of clinical immunologyAicardi-Goutières syndrome type 7 in a Chinese child: A case report.
World journal of clinical casesMeloxicam inhibits STING phosphorylation and alleviates intracellular DNA-mediated autoimmune responses.
Cell & bioscienceRNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.
Clinical geneticsEfficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).
Pediatric rheumatology online journalAicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications.
Indian journal of pediatricsThe ADAR1 editome reveals drivers of editing-specificity for ADAR1-isoforms.
Nucleic acids researchComparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
Frontiers in endocrinologyThe phenotype of the most common human ADAR1p150 Zα mutation P193A in mice is partially penetrant.
EMBO reportsAltered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome.
Clinical immunology (Orlando, Fla.)Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome.
Frontiers in immunologySAMHD1 restricts the deoxyguanosine triphosphate pool contributing to telomere stability in telomerase-positive cells.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyAdar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis.
BMJ case reportsDifferential Structural Features of Two Mutant ADAR1p150 Zα Domains Associated with Aicardi-Goutières Syndrome.
Journal of molecular biologyBreaking down the cellular responses to type I interferon neurotoxicity in the brain.
Frontiers in immunologyA case of Aicardi-Goutières syndrome caused by TREX1 gene mutation.
BMC pregnancy and childbirthMolecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
European journal of medical geneticsEarly arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.
The neuroradiology journalNewborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Frontiers in neurologyCase report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.
Frontiers in immunologyClinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.
World journal of pediatrics : WJPAicardi-Goutières syndrome: The need for clinical vigilance in fetuses with sonographic features of congenital infection.
European journal of obstetrics, gynecology, and reproductive biology[Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome.
BMJ case reportsEarly recognition of patients with leukodystrophies.
Current problems in pediatric and adolescent health careAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.
- 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.
- Heterozygous ADAR mutant mice exhibit RNA sensing-dependent neuroinflammation and phenotypes associated with Aicardi-Goutières syndrome.
- The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.
- Spastic Hip Dislocation in a Child With Aicardi-Goutières Syndrome: A Case Report.
- PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
- Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant.
- First case of TREX1 mutation-driven retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations coexisting with lupus nephritis: a case report and mechanistic discussion.
- Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:51(Orphanet)
- MONDO:0018866(MONDO)
- GARD:575(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q403453(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
