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Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS)
BackgroundThis study evaluated the efficacy and safety of baricitinib (Janus kinase-1/2 inhibitor), in adult and pediatric Japanese patients with...
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Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib
BackgroundType I interferonopathies are a group of rare autoimmune diseases characterised by excessive activation of type I interferon that leads to...
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Type I Interferonopathies: from a Novel Concept to Targeted Therapeutics
Purpose of the ReviewType I interferonopathies are monogenic autoinflammatory diseases induced by constitutive activation of type I interferon. Here,...
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Type I interferon pathway in pediatric systemic lupus erythematosus
BackgroundThe role of type I interferon (IFN-I) signaling in systemic lupus erythematosus (SLE) has been well established. However, unanswered...
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Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies
BackgroundJuvenile dermatomyositis (JDM) is a systemic autoimmune disease with a prominent interferon (IFN) signature, but the pathogenesis of JDM...
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Scope of JAK Inhibitors in Children: Recent Evidence and Way Forward
Over the last decade, there has been an increase in the use of targeted therapy using small molecules such as Janus kinase (JAK) inhibitors. Since...
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Toward a better understanding of type I interferonopathies: a brief summary, update and beyond
BackgroundsType I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling. The...
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Hemophagocytic lymphohistocytosis in trisomy 21: successful treatment with interferon inhibition
BackgroundHemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of immune dysregulation primarily driven by the cytokine...
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Inborn errors of immunity with kidney and urinary tract disorders: a review
Human inborn errors of immunity (IEIs), previously referred to as primary immunodeficiency disorders (PIDs), are a heterogeneous spectrum of...
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Efficacy and Safety of Janus Kinase Inhibitors in Type I Interferon-Mediated Monogenic Autoinflammatory Disorders: A Sco** Review
ImportanceType I interferon (IFN)-mediated monogenic autoinflammatory disorders (interferonopathies) are childhood-onset rare multisystemic diseases...
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Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases – a proof of concept study
BackgroundTranscriptome profiling of blood cells is an efficient tool to study the gene expression signatures of rheumatic diseases. This study aims...
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Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation
Monogenic disorders causing systemic lupus erythematosus represent a small subset of cases. Type-1 interferonopathies, like...
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De novo variants in immune regulatory genes in Down syndrome regression disorder
BackgroundDown Syndrome Regression Disorder (DSRD) is a rare and poorly understood disorder of the central nervous system, characterized by acute or...
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Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry
There is a gap in clinical knowledge regarding associations between specific inborn errors of immunity (IEIs) and rheumatologic diseases. This study...
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The everchanging framework of autoinflammation
The innate immunity works as a defence bullwark that safeguards healthy tissues with the power of detecting infectious agents in the human body:...
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Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib
BackgroundAicardi-Goutières syndrome (AGS) is a rare hereditary early-onset encephalopathy characterized by upregulation of the type I interferon...
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Therapeutic Approaches to Type I Interferonopathies
Purpose of ReviewTo review recent scientific advances and therapeutic approaches in the expanding field of type I interferonopathies.
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An Update on Autoinflammatory Diseases: Interferonopathies
Purpose of ReviewType I interferons (IFNαβ) induce the expression of hundreds of genes; thus, it is unsurprising that the initiation, transmission,...
