Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic
出版年份 2022 全文链接
标题
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic
作者
关键词
-
出版物
JOURNAL OF EXPERIMENTAL MEDICINE
Volume 219, Issue 6, Pages -
出版商
Rockefeller University Press
发表日期
2022-04-20
DOI
10.1084/jem.20212427
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome
- (2022) Hassan Abolhassani et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Immune determinants of COVID-19 disease presentation and severity
- (2021) Petter Brodin NATURE MEDICINE
- Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine
- (2021) Paul Bastard et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency
- (2021) Bishara J. Freij et al. Frontiers in Immunology
- Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway
- (2021) Isabelle Meyts et al. EUROPEAN JOURNAL OF IMMUNOLOGY
- Impaired local intrinsic immunity to SARS-CoV-2 infection in severe COVID-19
- (2021) Carly G.K. Ziegler et al. CELL
- Early nasal type I IFN immunity against SARS-CoV-2 is compromised in patients with autoantibodies against type I IFNs
- (2021) Jonathan Lopez et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Dynamic innate immune response determines susceptibility to SARS-CoV-2 infection and early replication kinetics
- (2021) Nagarjuna R. Cheemarla et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Mapping the human genetic architecture of COVID-19
- (2021) NATURE
- Pre-activated antiviral innate immunity in the upper airways controls early SARS-CoV-2 infection in children
- (2021) J. Loske et al. NATURE BIOTECHNOLOGY
- Tonic interferon restricts pathogenic IL-17-driven inflammatory disease via balancing the microbiome
- (2021) Isabelle J Marié et al. eLife
- Monogenic susceptibility to live viral vaccines
- (2021) Florian Gothe et al. CURRENT OPINION IN IMMUNOLOGY
- A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19
- (2021) Shaghayegh Khanmohammadi et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Local and systemic responses to SARS-CoV-2 infection in children and adults
- (2021) Masahiro Yoshida et al. NATURE
- Delayed induction of type I and III interferons mediates nasal epithelial cell permissiveness to SARS-CoV-2
- (2021) Catherine F. Hatton et al. Nature Communications
- HSV1 VP1-2 deubiquitinates STING to block type I interferon expression and promote brain infection
- (2020) Chiranjeevi Bodda et al. JOURNAL OF EXPERIMENTAL MEDICINE
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Genetic study of the Arctic CPT1A variant suggests that its effect on fatty acid levels is modulated by traditional Inuit diet
- (2020) Ninna Senftleber et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Essential role of autophagy in restricting poliovirus infection revealed by identification of an ATG7 defect in a poliomyelitis patient
- (2020) Nanna-Sophie Brinck Andersen et al. Autophagy
- Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
- (2020) Qian Zhang et al. SCIENCE
- Autoantibodies against type I IFNs in patients with life-threatening COVID-19
- (2020) Paul Bastard et al. SCIENCE
- Genetic Lesions of Type I Interferon Signalling in Human Antiviral Immunity
- (2020) Christopher J.A. Duncan et al. TRENDS IN GENETICS
- IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis
- (2020) Chiara Passarelli et al. Frontiers in Genetics
- A novel case of homozygous IFNAR1 deficiency with haemophagocytic lymphohistiocytosis
- (2020) Florian Gothe et al. CLINICAL INFECTIOUS DISEASES
- Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency
- (2020) Paul Bastard et al. JOURNAL OF CLINICAL INVESTIGATION
- Genetic mechanisms of critical illness in Covid-19
- (2020) Erola Pairo-Castineira et al. NATURE
- PremPS: Predicting the impact of missense mutations on protein stability
- (2020) Yuting Chen et al. PLoS Computational Biology
- Impaired control of multiple viral infections in a family with complete IRF9 deficiency
- (2019) María Bravo García-Morato et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis
- (2019) Mohammed F. Alosaimi et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Severe influenza pneumonitis in children with inherited TLR3 deficiency
- (2019) Hye Kyung Lim et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
- (2019) Nicholas Hernandez et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Genetic architecture and adaptations of Nunavik Inuit
- (2019) Sirui Zhou et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2
- (2019) Christopher J. A. Duncan et al. Science Immunology
- DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability
- (2018) Carlos HM Rodrigues et al. NUCLEIC ACIDS RESEARCH
- STING agonists enable antiviral cross-talk between human cells and confer protection against genital herpes in mice
- (2018) Morten K. Skouboe et al. PLoS Pathogens
- IFN-λ prevents influenza virus spread from the upper airways to the lungs and limits virus transmission
- (2018) Jonas Klinkhammer et al. eLife
- Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
- (2018) Nicholas Hernandez et al. JOURNAL OF EXPERIMENTAL MEDICINE
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- IFNAR2 Is Required for Anti-influenza Immunity and Alters Susceptibility to Post-influenza Bacterial Superinfections
- (2018) Kelly M. Shepardson et al. Frontiers in Immunology
- A novel kindred with inherited STAT2 deficiency and severe viral illness
- (2017) Leen Moens et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections
- (2017) Benson Ogunjimi et al. JOURNAL OF CLINICAL INVESTIGATION
- Improved microRNA suppression by WPRE-linked tough decoy microRNA sponges
- (2017) Anne Kruse Hollensen et al. RNA
- The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit
- (2016) Casper-Emil T. Pedersen et al. GENETICS
- The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit
- (2016) Casper-Emil T. Pedersen et al. GENETICS
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen et al. BIOINFORMATICS
- Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission
- (2015) Rojeen Shahni et al. BRAIN
- Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis
- (2015) N Mørk et al. GENES AND IMMUNITY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Inborn errors underlying herpes simplex encephalitis: From TLR3 to IRF3
- (2015) Shen-Ying Zhang et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Functional IRF3 deficiency in a patient with herpes simplex encephalitis
- (2015) Line Lykke Andersen et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- SIFT missense predictions for genomes
- (2015) Robert Vaser et al. Nature Protocols
- Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
- (2015) M. J. Ciancanelli et al. SCIENCE
- Human IFNAR2 deficiency: Lessons for antiviral immunity
- (2015) Christopher J. A. Duncan et al. Science Translational Medicine
- Interferons and viruses: an evolutionary arms race of molecular interactions
- (2015) Hans-Heinrich Hoffmann et al. TRENDS IN IMMUNOLOGY
- Second-generation PLINK: rising to the challenge of larger and richer datasets
- (2015) Christopher C Chang et al. GigaScience
- Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation
- (2014) Julien L. Marcadier et al. CANADIAN MEDICAL ASSOCIATION JOURNAL
- The genetic prehistory of the New World Arctic
- (2014) M. Raghavan et al. SCIENCE
- 25-Hydroxycholesterol suppresses interleukin-1-driven inflammation downstream of type I interferon
- (2014) A. Reboldi et al. SCIENCE
- LUMPY: a probabilistic framework for structural variant discovery
- (2014) Ryan M Layer et al. GENOME BIOLOGY
- RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference
- (2013) Brian K. Maples et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Partial IFN- R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation
- (2013) M. Moncada-Velez et al. BLOOD
- STAT2 deficiency and susceptibility to viral illness in humans
- (2013) S. Hambleton et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Efficient Sleeping Beauty DNA Transposition From DNA Minicircles
- (2013) Nynne Sharma et al. Molecular Therapy-Nucleic Acids
- DELLY: structural variant discovery by integrated paired-end and split-read analysis
- (2012) T. Rausch et al. BIOINFORMATICS
- Constitutive Type I Interferon Modulates Homeostatic Balance through Tonic Signaling
- (2012) Daniel J. Gough et al. IMMUNITY
- Structural and dynamic determinants of type I interferon receptor assembly and their functional interpretation
- (2012) Jacob Piehler et al. IMMUNOLOGICAL REVIEWS
- HeterozygousTBK1mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood
- (2012) Melina Herman et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Potent microRNA suppression by RNA Pol II-transcribed 'Tough Decoy' inhibitors
- (2012) R. O. Bak et al. RNA
- Severe impairment of IFN- and IFN- responses in cells of a patient with a novel STAT1 splicing mutation
- (2011) D. Vairo et al. BLOOD
- Structural Linkage between Ligand Discrimination and Receptor Activation by Type I Interferons
- (2011) Christoph Thomas et al. CELL
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- Type I Interferon Inhibits Interleukin-1 Production and Inflammasome Activation
- (2011) Greta Guarda et al. IMMUNITY
- Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency
- (2011) Vanessa Sancho-Shimizu et al. JOURNAL OF CLINICAL INVESTIGATION
- A linear complexity phasing method for thousands of genomes
- (2011) Olivier Delaneau et al. NATURE METHODS
- Genotype Imputation with Thousands of Genomes
- (2011) Bryan Howie et al. G3-Genes Genomes Genetics
- A novel form of human STAT1 deficiency impairing early but not late responses to interferons
- (2010) X.-F. Kong et al. BLOOD
- Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis
- (2010) Rebeca Pérez de Diego et al. IMMUNITY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Fast model-based estimation of ancestry in unrelated individuals
- (2009) D. H. Alexander et al. GENOME RESEARCH
- A partial form of recessive STAT1 deficiency in humans
- (2009) Ariane Chapgier et al. JOURNAL OF CLINICAL INVESTIGATION
- The type I IFN induction pathway constrains Th17-mediated autoimmune inflammation in mice
- (2008) Beichu Guo et al. JOURNAL OF CLINICAL INVESTIGATION
- Interferons and viruses: an interplay between induction, signalling, antiviral responses and virus countermeasures
- (2007) R. E. Randall et al. JOURNAL OF GENERAL VIROLOGY
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