A clinical score to guide in decision making for monogenic type I IFNopathies

Novel Proteasome Assembly Chaperone mutations in PSMG2/PAC2, cause the autoinflammatory interferonopathy, CANDLE/PRAAS4

(2019) Adriana A. de Jesus et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

(2018) Gina A. Montealegre Sanchez et al.   JOURNAL OF CLINICAL INVESTIGATION

Development of a Validated Interferon Score Using NanoString Technology

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

An open-label trial of JAK 1/2 blockade in progressive IFIH1 -associated neuroinflammation

(2018) Kavitha Kothur et al.   NEUROLOGY

The Ca2+ sensor STIM1 regulates the type I interferon response by retaining the signaling adaptor STING at the endoplasmic reticulum

(2018) Sonal Srikanth et al.   NATURE IMMUNOLOGY

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

(2017) Antonio Torrelo   Frontiers in Immunology

Consensus-based recommendations for the management of juvenile dermatomyositis

(2016) Felicitas Bellutti Enders et al.   ANNALS OF THE RHEUMATIC DISEASES

Novel interferonopathies associated with mutations in RIG-I like receptors

(2016) Insa Buers et al.   CYTOKINE & GROWTH FACTOR REVIEWS

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

(2016) David A. Parry et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

(2016) Gillian I. Rice et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Autoinflammatory diseases: update on classification diagnosis and management

(2016) Shelly Pathak et al.   JOURNAL OF CLINICAL PATHOLOGY

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

Nucleic acid-mediated autoinflammation and autoimmunity—type I interferonopathies

(2016) Min Ae Lee-Kirsch et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus

(2016) Hanna Kim et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy

(2016) Justin Chia et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond

(2016) Yanick Crow et al.   NEUROPEDIATRICS

Type I interferonopathies in pediatric rheumatology

(2016) Stefano Volpi et al.   Pediatric Rheumatology

Interféronopathies de type I

(2015) J. Munoz et al.   ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE

Molecular Mechanisms in Genetically Defined Autoinflammatory Diseases: Disorders of Amplified Danger Signaling

(2015) Adriana Almeida de Jesus et al.   Annual Review of Immunology

Inherited anomalies of innate immune receptors in pediatric-onset inflammatory diseases

(2015) Cécile Picard et al.   AUTOIMMUNITY REVIEWS

Type I interferonopathies: Mendelian type I interferon up-regulation

(2015) Yanick J Crow   CURRENT OPINION IN IMMUNOLOGY

Perception of self: distinguishing autoimmunity from autoinflammation

(2015) Tessa S. van Kempen et al.   Nature Reviews Rheumatology

Type I interferonopathies—an expanding disease spectrum of immunodysregulation

(2015) Min Ae Lee-Kirsch et al.   Seminars in Immunopathology

New monogenic autoinflammatory diseases—a clinical overview

(2015) Scott W. Canna et al.   Seminars in Immunopathology

Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy

(2015) Justine Munoz et al.   JAMA Dermatology

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

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Therapies in Aicardi-Goutières syndrome

(2013) Y. J. Crow et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus

(2012) Michelle Petri et al.   ARTHRITIS AND RHEUMATISM

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

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