Type I interferonopathies in pediatric rheumatology

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

Systemic Lupus Erythematosus and Deficiencies of Early Components of the Complement Classical Pathway

(2016) Ana Catarina Lunz Macedo et al.   Frontiers in 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

STING Activation by Translocation from the ER Is Associated with Infection and Autoinflammatory Disease

(2015) Nicole Dobbs et al.   Cell Host & Microbe

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

Functional IRF3 deficiency in a patient with herpes simplex encephalitis

(2015) Line Lykke Andersen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Type I interferon dysregulation and neurological disease

(2015) Sarah McGlasson et al.   Nature Reviews Neurology

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

Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease

(2015) Jessica L. Grieves et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

(2015) M. J. Ciancanelli et al.   SCIENCE

RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself

(2015) B. J. Liddicoat et al.   SCIENCE

Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3′ Repair Exonuclease 1 (TREX1)

(2015) Claudia Günther et al.   JAMA Dermatology

Stimulator of Interferon Genes–Associated Vasculopathy With Onset in Infancy

(2015) Justine Munoz et al.   JAMA Dermatology

Stimulator of Interferon Genes-Associated Vasculitis of Infancy

(2015) Ebun Omoyinmi et al.   Arthritis & Rheumatology

Nakajo-Nishimura Syndrome: An Autoinflammatory Disorder Showing Pernio-Like Rashes and Progressive Partial Lipodystrophy

(2015) Nobuo Kanazawa   ALLERGOLOGY INTERNATIONAL

Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

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

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

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

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

The enemy within: endogenous retroelements and autoimmune disease

(2014) Hannah E Volkman et al.   NATURE IMMUNOLOGY

Activated STING in a Vascular and Pulmonary Syndrome

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

Brief Report: Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing

(2014) Julia I. Ellyard et al.   Arthritis & Rheumatology

A phase 1b clinical trial evaluating sifalimumab, an anti-IFN-α monoclonal antibody, shows target neutralisation of a type I IFN signature in blood of dermatomyositis and polymyositis patients

(2013) Brandon W Higgs et al.   ANNALS OF THE RHEUMATIC DISEASES

Sifalimumab, a Human Anti-Interferon-α Monoclonal Antibody, in Systemic Lupus Erythematosus: A Phase I Randomized, Controlled, Dose-Escalation Study

(2013) Michelle Petri et al.   ARTHRITIS AND RHEUMATISM

DNASE1L3Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

(2013) Z. Birsin Özçakar et al.   ARTHRITIS AND RHEUMATISM

Therapies in Aicardi-Goutières syndrome

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

A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations

(2013) Amelia McDermott et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

Induction of type I IFNs by intracellular DNA-sensing pathways

(2012) Taner Cavlar et al.   IMMUNOLOGY AND CELL BIOLOGY

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

(2012) Gillian I Rice et al.   NATURE GENETICS

STING and the innate immune response to nucleic acids in the cytosol

(2012) Dara L Burdette et al.   NATURE IMMUNOLOGY

Cyclic GMP-AMP Is an Endogenous Second Messenger in Innate Immune Signaling by Cytosolic DNA

(2012) J. Wu et al.   SCIENCE

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

Safety profile and clinical activity of sifalimumab, a fully human anti-interferon   monoclonal antibody, in systemic lupus erythematosus: a phase I, multicentre, double-blind randomised study

(2011) J. T. Merrill et al.   ANNALS OF THE RHEUMATIC DISEASES

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

Binding and activity of all human alpha interferon subtypes

(2011) Thomas B. Lavoie et al.   CYTOKINE

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

(2011) B Namjou et al.   GENES AND IMMUNITY

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

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

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

(2011) David C. Goldstone et al.   NATURE

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

(2011) Tracy A Briggs et al.   NATURE GENETICS

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

(2011) Ekkehart Lausch et al.   NATURE GENETICS

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

(2011) Sulaiman M Al-Mayouf et al.   NATURE GENETICS

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

Inborn errors of anti-viral interferon immunity in humans

(2011) Vanessa Sancho-Shimizu et al.   Current Opinion in Virology

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

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

(2010) Jane C. Ravenscroft et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

(2010) Abhimanyu Garg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome

(2010) Antonio Torrelo et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

(2010) G. M. H. Abdel-Salam et al.   NEUROPEDIATRICS

Imaging of Childhood Interstitial Lung Disease

(2010) R. Paul Guillerman   Pediatric Allergy Immunology and Pulmonology

Neutralization of interferon-α/β-inducible genes and downstream effect in a phase I trial of an anti-interferon-α monoclonal antibody in systemic lupus erythematosus

(2009) Yihong Yao et al.   ARTHRITIS AND RHEUMATISM

C1q inhibits immune complex-induced interferon-α production in plasmacytoid dendritic cells: A novel link between C1q deficiency and systemic lupus erythematosus pathogenesis

(2009) Christian Lood et al.   ARTHRITIS AND RHEUMATISM

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

(2009) Gillian I Rice et al.   NATURE GENETICS

Anti-TNF-induced lupus

(2009) E. L. Williams et al.   RHEUMATOLOGY