Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

Self-Awareness: Nucleic Acid–Driven Inflammation and the Type I Interferonopathies

(2019) Carolina Uggenti et al.   Annual Review of Immunology

Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice

(2018) Delphine Bouis et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Development of a Validated Interferon Score Using NanoString Technology

(2018) Hanna Kim et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

IRF9 and unphosphorylated STAT2 cooperate with NF-κB to drive IL6 expression

(2018) Jing Nan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

STAT1 and STAT3 mutations: important lessons for clinical immunologists

(2018) Peter Olbrich et al.   Expert Review of Clinical Immunology

A novel kindred with inherited STAT2 deficiency and severe viral illness

(2017) Leen Moens et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

(2017) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

IRF3 and type I interferons fuel a fatal response to myocardial infarction

(2017) Kevin R King et al.   NATURE MEDICINE

Salmon provides fast and bias-aware quantification of transcript expression

(2017) Rob Patro et al.   NATURE METHODS

STAT2 is an essential adaptor in USP18-mediated suppression of type I interferon signaling

(2017) Kei-ichiro Arimoto et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

STAT2 is an essential adaptor in USP18-mediated suppression of type I interferon signaling

(2017) Kei-ichiro Arimoto et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

MultiQC: summarize analysis results for multiple tools and samples in a single report

(2016) Philip Ewels et al.   BIOINFORMATICS

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

(2016) Marije E.C. Meuwissen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STAT2 Is a Pervasive Cytokine Regulator due to Its Inhibition of STAT1 in Multiple Signaling Pathways

(2016) Johnathan Ho et al.   PLOS BIOLOGY

USP18 lack in microglia causes destructive interferonopathy of the mouse brain

(2015) T. Goldmann et al.   EMBO JOURNAL

Type I interferon dysregulation and neurological disease

(2015) Sarah McGlasson et al.   Nature Reviews Neurology

Selective inactivation of USP18 isopeptidase activity in vivo enhances ISG15 conjugation and viral resistance

(2015) Lars Ketscher et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human IFNAR2 deficiency: Lessons for antiviral immunity

(2015) Christopher J. A. Duncan et al.   Science Translational Medicine

The molecular basis for functional plasticity in type I interferon signaling

(2015) Gideon Schreiber et al.   TRENDS IN IMMUNOLOGY

Dynamic control of type I IFN signalling by an integrated network of negative regulators

(2015) Rebecca A. Porritt et al.   TRENDS IN IMMUNOLOGY

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

(2014) J. D. Milner et al.   BLOOD

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

(2014) Xianqin Zhang et al.   NATURE

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

(2014) Gillian I Rice et al.   NATURE GENETICS

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

(2014) Sarah E Flanagan et al.   NATURE GENETICS

The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA

(2014) Niamh M. Mannion et al.   Cell Reports

voom: precision weights unlock linear model analysis tools for RNA-seq read counts

(2014) Charity W Law et al.   GENOME BIOLOGY

Type I Interferon in Human Autoimmunity

(2014) Timothy B. Niewold   Frontiers in Immunology

Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity

(2013) R. Behrendt et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

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

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

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

Constitutive Type I Interferon Modulates Homeostatic Balance through Tonic Signaling

(2012) Daniel J. Gough et al.   IMMUNITY

INTERFEROME v2.0: an updated database of annotated interferon-regulated genes

(2012) Irina Rusinova et al.   NUCLEIC ACIDS RESEARCH

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

(2011) Yanick J. Crow   Annals of the New York Academy of Sciences

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

USP18-Based Negative Feedback Control Is Induced by Type I and Type III Interferons and Specifically Inactivates Interferon α Response

(2011) Véronique François-Newton et al.   PLoS One

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

(2009) A. Tortajada et al.   HUMAN MOLECULAR GENETICS

Alpha Interferon Induces Long-Lasting Refractoriness of JAK-STAT Signaling in the Mouse Liver through Induction of USP18/UBP43

(2009) M. Sarasin-Filipowicz et al.   MOLECULAR AND CELLULAR BIOLOGY

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL