Laboratory of Neurogenetics and Neuroinflammation,
INSERM UMR1163,
Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163
Yanick J. Crow has not added Biography.
If you are Yanick J. Crow and would like to personalize this page please email our Author Liaison for assistance.
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Nature genetics Aug, 2006 | Pubmed ID: 16845398
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Nature genetics Aug, 2006 | Pubmed ID: 16845400
Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.
Developmental medicine and child neurology Jun, 2008 | Pubmed ID: 18422679
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
Human molecular genetics Oct, 2009 | Pubmed ID: 19808788
The story of DNase II: a stifled death-wish leads to self-harm.
European journal of immunology Sep, 2010 | Pubmed ID: 20706989
Lupus: how much "complexity" is really (just) genetic heterogeneity?
Arthritis and rheumatism Dec, 2011 | Pubmed ID: 22127688
Type I interferonopathies: a novel set of inborn errors of immunity.
Annals of the New York Academy of Sciences Nov, 2011 | Pubmed ID: 22129056
Aicardi-Goutières syndrome.
Handbook of clinical neurology , 2013 | Pubmed ID: 23622384
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Lancet neurology Dec, 2013 | Pubmed ID: 24183309
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Neuropediatrics Dec, 2014 | Pubmed ID: 25243380
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Pediatric rheumatology online journal , 2014 | Pubmed ID: 25278816
Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.
Pediatric neurology Dec, 2014 | Pubmed ID: 25301227
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
The Journal of clinical investigation Dec, 2014 | Pubmed ID: 25401470
Type I interferonopathies: mendelian type I interferon up-regulation.
Current opinion in immunology Feb, 2015 | Pubmed ID: 25463593
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.
Journal of child neurology Sep, 2015 | Pubmed ID: 25535058
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
American journal of medical genetics. Part A Feb, 2015 | Pubmed ID: 25604658
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.
JAMA dermatology Aug, 2015 | Pubmed ID: 25992765
Neuromyelitis optica in a child with Aicardi-Goutières syndrome.
Neurology Jul, 2015 | Pubmed ID: 26136517
Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.
Pediatrics Aug, 2015 | Pubmed ID: 26216333
Novel monogenic diseases causing human autoimmunity.
Current opinion in immunology Dec, 2015 | Pubmed ID: 26262888
cGMP-AMP synthase paves the way to autoimmunity.
Proceedings of the National Academy of Sciences of the United States of America Oct, 2015 | Pubmed ID: 26450878
ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.
PloS one , 2015 | Pubmed ID: 26629815
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Journal of clinical immunology Apr, 2016 | Pubmed ID: 26951490
A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.
Genes & development 04, 2016 | Pubmed ID: 27013236
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Journal of clinical immunology Jul, 2016 | Pubmed ID: 27125509
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.
Arthritis & rheumatology (Hoboken, N.J.) 01, 2017 | Pubmed ID: 27390188
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nature genetics 10, 2016 | Pubmed ID: 27571260
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
Neuropediatrics Dec, 2016 | Pubmed ID: 27643693
JAK inhibition in STING-associated interferonopathy.
Annals of the rheumatic diseases Dec, 2016 | Pubmed ID: 27733349
Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118.
Journal of the neurological sciences Jan, 2017 | Pubmed ID: 27793341
Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview.
The Journal of experimental medicine Nov, 2016 | Pubmed ID: 27821552
Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.
Journal of clinical immunology Feb, 2017 | Pubmed ID: 27943079
Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.
Joint, bone, spine : revue du rhumatisme Oct, 2017 | Pubmed ID: 28039062
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.
The Journal of allergy and clinical immunology Aug, 2017 | Pubmed ID: 28087229
Detection of interferon alpha protein reveals differential levels and cellular sources in disease.
The Journal of experimental medicine May, 2017 | Pubmed ID: 28420733
Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.
Pediatric neurology Jun, 2017 | Pubmed ID: 28424147
Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.
Arthritis & rheumatology (Hoboken, N.J.) 07, 2017 | Pubmed ID: 28426911
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics Jun, 2017 | Pubmed ID: 28561207
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
Arthritis & rheumatology (Hoboken, N.J.) 10, 2017 | Pubmed ID: 28605144
Polymorphisms in IFIH1: the good and the bad.
Nature immunology 06, 2017 | Pubmed ID: 28632717
Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation.
Cell stem cell Sep, 2017 | Pubmed ID: 28803918
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Journal of clinical immunology Jan, 2018 | Pubmed ID: 29226301
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
Journal of clinical immunology Jan, 2018 | Pubmed ID: 29226302
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Nature communications Dec, 2017 | Pubmed ID: 29259162
Sort Your Self Out!
Cell Feb, 2018 | Pubmed ID: 29425484
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Human mutation May, 2018 | Pubmed ID: 29782060
Alba Llibre*,1,2,
Vincent Bondet*,1,2,
Mathieu P. Rodero3,
David Hunt4,
Yanick J. Crow3,5,
Darragh Duffy1,2
1Immunobiology of Dendritic Cells, Institut Pasteur,
2, INSERM U1223,
3Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR1163, Institut Imagine,
4MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh,
5Manchester Centre for Genomic Medicine, University of Manchester
ABOUT JoVE
Copyright © 2024 MyJoVE Corporation. All rights reserved