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LASSO-derived nomogram for early identification of pediatric monogenic lupus
BackgroundMonogenic lupus is defined as systemic lupus erythematosus (SLE)/SLE-like patients with either dominantly or recessively inherited...
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Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome
BackgroundFamilial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red...
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Cutaneous Lupus Erythematosus: An Update on Pathogenesis and Future Therapeutic Directions
Lupus erythematosus comprises a spectrum of autoimmune diseases that may affect various organs (systemic lupus erythematosus [SLE]) or the skin only...
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Refractory Systemic Lupus Erythematosus: Identification and Pharmacological Management
Systemic lupus erythematosus (SLE) is characterized by an aberrant immune response, leading to an extremely heterogeneous clinical presentation,...
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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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Systemic Lupus Erythematosus in Children and Young People
Purpose of ReviewJuvenile-onset systemic lupus erythematosus ((j)SLE) is an autoimmune/inflammatory disease that results in significant damage and...
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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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Janus Kinase Inhibition and SLE: Is this a Plausible Treatment Option for SLE?
Purpose of reviewSystemic lupus erythematosus (SLE) is a multi-organ autoimmune disease. There is a need for newer therapies to achieve disease...
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A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
BackgroundSTING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING ...
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Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants
The past few years have provided important insights into the genetic architecture of systemic autoimmunity through aggregation of findings from...
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Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking...
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An Update on the Pathogenesis of Cutaneous Lupus Erythematosus and Its Role in Clinical Practice
Purpose of ReviewUnderstanding the pathogenesis of cutaneous lupus erythematosus (CLE) is an important step in develo** new medications and...
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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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Emerging concepts of type I interferons in SLE pathogenesis and therapy
Type I interferons have been suspected for decades to have a crucial role in the pathogenesis of systemic lupus erythematosus (SLE). Evidence has now...
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Phalangeal microgeodic syndrome: a paediatric case series
AbstractWe present the clinical and radiological characteristics of phalangeal microgeodic syndrome in a cluster of five children during the second...
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Clinical spectrum and currently available treatment of type I interferonopathy Aicardi–Goutières syndrome
BackgroundAicardi–Goutières syndrome (AGS) is a genetically determined disorder with a variable phenotype. Since the original description of AGS,...
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Autoinflammatorische Erkrankungen – ein expandierendes Spektrum
Autoinflammatory diseases comprise a growing genetically heterogeneous group of diseases with a broad and variable clinical spectrum. From...
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Biologic Therapies for the Management of Cutaneous Findings in Genodermatoses: A Review
Genodermatoses are genetically inherited dermatologic conditions. The management of cutaneous findings in genodermatoses is challenging, and...