An Update on Autoinflammatory Diseases: Interferonopathies

Human ADAR1 Prevents Endogenous RNA from Triggering Translational Shutdown

(2018) Hachung Chung et al.   CELL

Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation

(2018) Sadeem Ahmad et al.   CELL

Type I interferon pathway activation in COPA syndrome

(2018) Stefano Volpi et al.   CLINICAL IMMUNOLOGY

MDA5-Associated Neuroinflammation and the Singleton–Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

(2017) Insa Buers et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

Imaging findings of Copa syndrome in a 12-year-old boy

(2017) Razan Noorelahi et al.   PEDIATRIC RADIOLOGY

Type I interferon-mediated autoinflammation due to DNase II deficiency

(2017) Mathieu P. Rodero et al.   Nature Communications

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

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

(2016) Petro Starokadomskyy et al.   NATURE IMMUNOLOGY

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

Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

(2015) Yanick J. Crow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Unusual cutaneous features associated with a heterozygous gain-of-function mutation inIFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes

(2015) A.-C. Bursztejn et al.   BRITISH JOURNAL OF DERMATOLOGY

TORCH Infections

(2015) Natalie Neu et al.   CLINICS IN PERINATOLOGY

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

(2015) Anja Brehm et al.   JOURNAL OF CLINICAL INVESTIGATION

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

(2015) Levi B Watkin et al.   NATURE GENETICS

Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE)

(2015) G Montealegre et al.   Pediatric Rheumatology

Establishing the role of ATP for the function of the RIG-I innate immune sensor

(2015) David C Rawling et al.   eLife

Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

(2014) Hirotsugu Oda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interferon-Stimulated Genes: A Complex Web of Host Defenses

(2014) William M. Schneider et al.   Annual Review of Immunology

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

(2014) Nadia Jeremiah et al.   JOURNAL OF CLINICAL INVESTIGATION

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

DNA Degradation and Its Defects

(2014) K. Kawane et al.   Cold Spring Harbor Perspectives in Biology

Pattern Recognition and Signaling Mechanisms of RIG-I and MDA5

(2014) Stephanie Reikine et al.   Frontiers in Immunology

Singleton-Merten syndrome: An autosomal dominant disorder with variable expression

(2013) Annette Feigenbaum et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Therapeutic Efficacy of Suppressing the JAK/STAT Pathway in Multiple Models of Experimental Autoimmune Encephalomyelitis

(2013) Y. Liu et al.   JOURNAL OF IMMUNOLOGY

Mechanism for priming DNA synthesis by yeast DNA Polymerase α

(2013) Rajika L Perera et al.   eLife

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

(2011) Yin Liu et al.   ARTHRITIS AND RHEUMATISM

A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans

(2011) Akiko Kitamura et al.   JOURNAL OF CLINICAL INVESTIGATION

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

(2011) K. Arima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity

(2009) Hiroki Ishikawa et al.   NATURE