A partial form of inherited human USP18 deficiency underlies infection and inflammation
出版年份 2022 全文链接
标题
A partial form of inherited human USP18 deficiency underlies infection and inflammation
作者
关键词
-
出版物
JOURNAL OF EXPERIMENTAL MEDICINE
Volume 219, Issue 4, Pages -
出版商
Rockefeller University Press
发表日期
2022-03-08
DOI
10.1084/jem.20211273
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- (2021) Alice Muglia Amancio et al. JOURNAL OF IMMUNOLOGY
- Clinical case of type I interferonopathy: homozygous STAT2 gain-of-function mutation
- (2021) А. L. Kozlova et al. Pediatric Hematology/Oncology and Immunopathology
- Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
- (2020) Stuart G. Tangye et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy
- (2020) Conor Gruber et al. JOURNAL OF EXPERIMENTAL MEDICINE
- JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency
- (2020) Fahad Alsohime et al. NEW ENGLAND JOURNAL OF MEDICINE
- Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions
- (2020) Marta Martin-Fernandez et al. Cell Reports
- Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
- (2020) Conor N. Gruber et al. IMMUNITY
- 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
- Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency
- (2018) Xiao-Fei Kong et al. NATURE IMMUNOLOGY
- The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics
- (2018) Justin Taft et al. JOURNAL OF IMMUNOLOGY
- Extracellular ISG15 Signals Cytokine Secretion through the LFA-1 Integrin Receptor
- (2017) Caleb D. Swaim et al. MOLECULAR CELL
- Structural basis of the specificity of USP18 toward ISG15
- (2017) Anja Basters 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
- ISG15: In Sickness and in Health
- (2017) Mark Hermann et al. TRENDS IN IMMUNOLOGY
- Structural basis of the specificity of USP18 toward ISG15
- (2017) Anja Basters 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
- Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
- (2016) J. Toubiana et al. BLOOD
- Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
- (2016) Marije E.C. Meuwissen et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview
- (2016) Mathieu P. Rodero et al. JOURNAL OF EXPERIMENTAL MEDICINE
- ISG15 deficiency and increased viral resistance in humans but not mice
- (2016) Scott D. Speer et al. Nature Communications
- Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
- (2015) Mi-Ae Jang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
- (2015) Frank Rutsch et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
- (2015) S. Okada et al. SCIENCE
- Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
- (2014) Xianqin Zhang et al. NATURE
- Activated STING in a Vascular and Pulmonary Syndrome
- (2014) Yin Liu et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
- (2014) Jacinta Bustamante et al. SEMINARS IN IMMUNOLOGY
- A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1
- (2013) John H Livingston et al. JOURNAL OF MEDICAL GENETICS
- 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
- USP18 establishes the transcriptional and anti-proliferative interferon α/β differential
- (2012) Véronique Francois-Newton et al. BIOCHEMICAL JOURNAL
- Mycobacterial Disease and Impaired IFN- Immunity in Humans with Inherited ISG15 Deficiency
- (2012) D. Bogunovic et al. SCIENCE
- 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
- Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
- (2011) Jacinta Bustamante et al. NATURE IMMUNOLOGY
- IRF8Mutations and Human Dendritic-Cell Immunodeficiency
- (2011) Sophie Hambleton et al. NEW ENGLAND JOURNAL OF MEDICINE
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome
- (2010) Antonio Torrelo et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
- (2009) Y. J. Crow et al. HUMAN MOLECULAR GENETICS
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