A partial form of inherited human USP18 deficiency underlies infection and inflammation

IFNs Reset the Differential Capacity of Human Monocyte Subsets to Produce IL-12 in Response to Microbial Stimulation

(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