-
Article
Open AccessMonogenic disorders as mimics of juvenile idiopathic arthritis
Juvenile idiopathic arthritis is the most common chronic rheumatic disease of childhood. The term JIA encompasses a heterogenous group of diseases. The variability in phenotype of patients affected by the dise...
-
Article
TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia
-
Article
The (Orf)ull truth about IRF5 and type I interferons in SLE
Exactly how nucleic acids trigger type I interferon responses via certain Toll-like receptors has been uncertain. Now, a new pathway involving gene products previously linked to systemic lupus erythematosus bu...
-
Article
RNASEH2B Related Adult-Onset Interferonopathy
-
Article
Open AccessType I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles
To investigate the relationships between interferon alpha (IFNα) and the clinical and serological phenotype of patients with systemic autoimmune rheumatic disease (SARDs) in order to determine whether a distin...
-
Article
Open AccessDDX58 and Classic Singleton-Merten Syndrome
Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previousl...
-
Article
Open AccessProceedings of the 23rd Paediatric Rheumatology European Society Congress: part one
-
Article
Open AccessAssessment of Type I Interferon Signaling in Pediatric Inflammatory Disease
Increased type I interferon is considered relevant to the pathology of a number of monogenic and complex disorders spanning pediatric rheumatology, neurology, and dermatology. However, no test exists in routin...
-
Article
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
-
Article
Open AccessSpondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohor...
-
Article
Osteopontin - a biomarker for organ damage in paediatric lupus?
A growing body of literature has demonstrated that the multifunctional glycoprotein osteopontin (OPN), has a role in type I interferon (IFN) production and may be involved in systemic lupus erythematosus (SLE)...
-
Article
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Yanick Crow and colleagues show that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome, accompanied by upregulation of interferon-stimulated genes. ADAR1 encodes an enzyme that catalyzes...
-
Article
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
Yanick Crow and colleagues show that mutations in ACP5, which encodes tartrate-resistant acid phosphatase, cause spondyloenchondrodysplasia, a bone dysplasia with autoimmunity. The affected individuals had elevat...
-
Article
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Aicardi-Goutieres syndrome is a genetically determined encephalopathy that is associated with an increased production of interferon alpha, which in turn is central to the pathogenesis of systemic lupus erythem...
