Associated Papers
Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.
Dale RC et al.
Clinical & Translational Immunology, 2026
Genetic testing in cerebral palsy with clinical and neuroimaging variables.
Tantsis EM et al.
Developmental Medicine and Child Neurology, 2025
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Gabaldon-Albero A et al.
Pediatric Rheumatology Online Journal, 2024
The Type 1 Diabetes-Associated Single Nucleotide Polymorphism rs1990760 in IFIH1 Is Associated with Increased Basal Type I IFNs and IFN-stimulated Gene Expression.
Taylor JP et al.
Journal of Immunology (baltimore, Md. : 1950), 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Innate immune responses to RNA: sensing and signaling.
Luan X et al.
Frontiers in Immunology, 2024
Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1.
Kida Y et al.
Journal of Clinical Immunology, 2023
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML et al.
Journal of Clinical Immunology, 2023
Aicardi-Goutières syndrome presenting with pneumocystis jirovecii pneumonia.
Fogel LA et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
Dragoni F et al.
Frontiers in Endocrinology, 2023
Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis.
Ohto T et al.
Journal of Autoimmunity, 2022
MDA5 disease variant M854K prevents ATP-dependent structural discrimination of viral and cellular RNA.
Yu Q et al.
Nature Communications, 2021
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C et al.
Pediatric Neurology, 2021
JAK Inhibition in the Aicardi-Goutières Syndrome.
Neven B et al.
The New England Journal of Medicine, 2020
Distinct and Orchestrated Functions of RNA Sensors in Innate Immunity.
Liu G et al.
Immunity, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.
Yu ZX et al.
World Journal of Pediatrics : Wjp, 2020
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
de Carvalho LM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
Buers I et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2017
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.
Lu C et al.
Frontiers in Genetics, 2017
Novel interferonopathies associated with mutations in RIG-I like receptors.
Buers I et al.
Cytokine & Growth Factor Reviews, 2016
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Marguet F et al.
American Journal of Medical Genetics. Part A, 2016
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
Diamond J
Clinical Genetics, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI et al.
Nature Genetics, 2014