Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI)

(2022) Clémence David et al.   Cells

Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis

(2022) Aurélien Guffroy et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2022) Kader Cetin Gedik et al.   Arthritis & Rheumatology

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China

(2022) Wendao Li et al.   Frontiers in Immunology

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

(2021) Malak Ali Alghamdi et al.   Frontiers in Immunology

Efficacy and Safety of Janus Kinase Inhibitors in Type I Interferon-Mediated Monogenic Autoinflammatory Disorders: A Scoping Review

(2021) Pedro Jesús Gómez-Arias et al.   Dermatology and Therapy

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

Janus kinase inhibition in complement component 1 deficiency

(2020) Christine Wolf et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

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

Familial Interstitial Lung Disease Caused by Mutation of the STING1 Gene

(2020) Jinying Li et al.   Frontiers in Pediatrics

Association of homozygous variants of STING1 with outcome in human cervical cancer

(2020) Joyce M. Lubbers et al.   CANCER SCIENCE

cGAS in action: Expanding roles in immunity and inflammation

(2019) Andrea Ablasser et al.   SCIENCE

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

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

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

(2019) Scott B. Drutman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Baricitinib experience on STING-associated vasculopathy with onset in infancy: A representative case from Turkey

(2019) Sibel Balci et al.   CLINICAL IMMUNOLOGY

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

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

TMEM173 variants and potential importance to human biology and disease

(2018) Seema Patel et al.   GENES AND IMMUNITY

Multiple Homozygous Variants in the STING-EncodingTMEM173Gene in HIV Long-Term Nonprogressors

(2018) Sara K. Nissen et al.   JOURNAL OF IMMUNOLOGY

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING

(2018) Hiroyasu Konno et al.   Cell Reports

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

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

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173

(2017) Jieun Seo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy

(2016) Sarah L. N. Clarke et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

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

The Common R71H-G230A-R293Q HumanTMEM173Is a Null Allele

(2016) Seema Patel et al.   JOURNAL OF IMMUNOLOGY

Therapeutic potential of targeting TBK1 in autoimmune diseases and interferonopathies

(2016) Maroof Hasan et al.   PHARMACOLOGICAL RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

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

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

Activated STING in a Vascular and Pulmonary Syndrome

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

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Predicting the functional consequences of cancer-associated amino acid substitutions

(2013) Hashem A. Shihab et al.   BIOINFORMATICS

Single Nucleotide Polymorphisms of Human STING Can Affect Innate Immune Response to Cyclic Dinucleotides

(2013) Guanghui Yi et al.   PLoS One

Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD

(2010) M. Vujic et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

(2009) Sandro Rossetti et al.   KIDNEY INTERNATIONAL

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols