The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE / PRAAS , SAVI , and AGS

Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy

(2021) Takashi Ishikawa et al.   JOURNAL OF CLINICAL IMMUNOLOGY

STING-Mediated Lung Inflammation and Beyond

(2021) Marie-Louise Frémond et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Successful treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome with tofacitinib

(2021) Pooja N. Patel et al.   PEDIATRIC DERMATOLOGY

Retinal vasculopathy in STING-associated vasculitis of infancy (SAVI)

(2021) Samantha Cooray et al.   RHEUMATOLOGY

American College of Rheumatology Guidance for COVID‐19 Vaccination in Patients With Rheumatic and Musculoskeletal Diseases: Version 3

(2021) Jeffrey R. Curtis et al.   Arthritis & Rheumatology

Myositis with sarcoplasmic inclusions in Nakajo‐Nishimura syndrome: a genetic inflammatory myopathy

(2020) Ayaki Takashi et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

(2020) S. L. N. Clarke et al.   Pediatric Rheumatology

A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

(2020) Bin Lin et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Development of a neurologic severity scale for Aicardi Goutières Syndrome

(2020) Laura A. Adang et al.   MOLECULAR GENETICS AND METABOLISM

Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI)

(2020) Mia Ma et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Janus Kinase Inhibition in the Aicardi–Goutières Syndrome

(2020) Adeline Vanderver et al.   NEW ENGLAND JOURNAL OF MEDICINE

Familial Interstitial Lung Disease Caused by Mutation of the STING1 Gene

(2020) Jinying Li et al.   Frontiers in Pediatrics

Delphi Technique in Health Sciences: A Map

(2020) Marlen Niederberger et al.   Frontiers in Public Health

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

(2020) Carolina Uggenti et al.   NATURE GENETICS

Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features

(2020) Cara Piccoli et al.   PEDIATRIC NEUROLOGY

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

(2020) Marie-Louise Frémond et al.   Journal of Allergy and Clinical Immunology-In Practice

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

Efficacy of baricitinib in the treatment of chilblains associated with the type I interferonopathy Aicardi-Goutières syndrome

(2019) Kornvalee Meesilpavikkai et al.   Arthritis & Rheumatology

Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation

(2019) Nick Zimmermann et al.   JAMA Dermatology

Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome

(2019) Debopam Samanta et al.   PEDIATRIC NEUROLOGY

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications

(2019) Davide Tonduti et al.   MOLECULAR GENETICS AND METABOLISM

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

(2019) Stefano Volpi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

(2019) Jessica Garau et al.   Journal of Clinical Medicine

Treatments in Aicardi–Goutières syndrome

(2019) Yanick J Crow et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

2019 update of EULAR recommendations for vaccination in adult patients with autoimmune inflammatory rheumatic diseases

(2019) Victoria Furer et al.   ANNALS OF THE RHEUMATIC DISEASES

Developmental Outcomes of Aicardi Goutières Syndrome

(2019) Laura Adang et al.   JOURNAL OF CHILD NEUROLOGY

APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI)

(2019) Qassim Abid et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

PSMB10, the last immunoproteasome gene missing for PRAAS

(2019) Guillaume Sarrabay et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib

(2019) Xiaolei Tang et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Cardiac valve involvement in ADAR-related type I interferonopathy

(2019) Yanick Crow et al.   JOURNAL OF MEDICAL GENETICS

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

(2019) Hafize Emine Sönmez et al.   PEDIATRIC RESEARCH

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

(2019) Adriana A. de Jesus et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

(2019) Salla Keskitalo et al.   Frontiers in Immunology

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

(2018) M. Cecilia Poli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

(2018) Fuad Al Mutairi et al.   PEDIATRIC NEUROLOGY

Is MRI imaging in pediatric age totally safe? A critical reprisal

(2018) Sergio Salerno et al.   Radiologia Medica

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy

(2018) Rohit G. Saldanha et al.   Frontiers in Immunology

Aicardi goutières syndrome is associated with pulmonary hypertension

(2018) Laura A. Adang et al.   MOLECULAR GENETICS AND METABOLISM

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

(2018) Gillian I. Rice et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome

(2017) Birutė Tumienė et al.   European Journal of Medical Genetics

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

(2017) Sulaiman M. Al-Mayouf et al.   International Journal of Rheumatic Diseases

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

(2017) Isabelle Melki et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi–Goutières Syndrome

(2017) Ben X. Wang et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

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

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

(2017) Thais Armangue et al.   MOLECULAR GENETICS AND METABOLISM

Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes

(2017) Avinash Jain et al.   RHEUMATOLOGY INTERNATIONAL

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

(2017) Antonio Torrelo   Frontiers in Immunology

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

(2017) Ebun Omoyinmi et al.   PLoS One

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome

(2016) Kevin Yarbrough et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial chilblain lupus due to a gain-of-function mutation in STING

(2016) Nadja König et al.   ANNALS OF THE RHEUMATIC DISEASES

Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation)

(2016) Cécile Picard et al.   CHEST

Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study

(2016) Lesley A Stellitano et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children

(2016) Marie-Louise Frémond et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi–Goutières Syndrome

(2016) Marco Cattalini et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

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

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

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

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

(2015) Roberta La Piana et al.   NEUROLOGY

2014 Update of the EULAR standardised operating procedures for EULAR-endorsed recommendations

(2014) Désirée van der Heijde et al.   ANNALS OF THE RHEUMATIC DISEASES

Early-Onset Aicardi-Goutières Syndrome

(2014) Adeline Vanderver et al.   JOURNAL OF CHILD NEUROLOGY

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

Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

(2014) Maha Zaki et al.   NEUROPEDIATRICS

Activated STING in a Vascular and Pulmonary Syndrome

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

Epilepsy in Aicardi–Goutières syndrome

(2013) Georgia Ramantani et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

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

A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

(2013) J. Abe et al.   RHEUMATOLOGY

Recognizable phenotypes associated with intracranial calcification

(2012) JOHN H LIVINGSTON et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Aicardi-Goutières syndrome with emphasis on sonographic features in infancy

(2012) L. Rossler et al.   PEDIATRIC RADIOLOGY

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

(2012) J. Abe et al.   RHEUMATOLOGY

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

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

(2011) B. Xin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

(2010) Russell C. Dale et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

(2010) Georgia Ramantani et al.   ARTHRITIS AND RHEUMATISM

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

(2010) VENKATESWARAN RAMESH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

(2010) Holger Thiele et al.   HUMAN MUTATION

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

Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up

(2009) C. Uggetti et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Interferon-Related Transcriptome Alterations in the Cerebrospinal Fluid Cells of Aicardi-Goutières Patients

(2009) Alberto Izzotti et al.   BRAIN PATHOLOGY

KDIGO clinical practice guideline for the care of kidney transplant recipients: a summary

(2009) Bertram L. Kasiske et al.   KIDNEY INTERNATIONAL

Cutaneous histopathological findings of AicardiGoutires syndrome, overlap with chilblain lupus

(2008) Athanassios Kolivras et al.   JOURNAL OF CUTANEOUS PATHOLOGY