We developed preliminary core sets of measures for disease activity and damage assessment in JSLE and JDM. The prospective validation of the core sets is in progress.
onset in infancy (SAVI), and another by additive loss-of-function mutations in proteasome genes causing the proteasome-associated autoinflammatory syndromes (PRAAS) (also, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures [CANDLE]), presented with chronically elevated interferon (IFN) signatures, suggesting a pathogenic role for type-I IFN in autoinflammatory diseases (2, 3). Type-I IFN was first discovered as a soluble antiviral factor over 50 years ago, and a role in sterile inflammation was proposed in patients with systemic lupus erythematosus (4). However, the discovery of genetic mutations that cause the autoinflammatory type-I interferonopathies CANDLE (2, 5), SAVI (3, 6-8), and Aicardi-Goutières syndrome (AGS) (9, 10) have shed light on pathomechanisms that drive chronic IFN signaling, and recent studies blocking IFN signaling validate a critical role for type-I IFNs (11). AGS-causing loss-of-function mutations in nucleases impair self-nucleic acid homeostasis, SAVI-causing
41% of the patients with JIA had active disease or were on medication after 30 years and 28% had a high symptom state. Remission rates and patient-reported health status at 15 years were comparable with rates at 30 years.
A functional single nucleotide polymorphism, 1858C4T, in the PTPN22 gene, encoding a tyrosine phosphatase, has been reported to be associated with type I diabetes and some other autoimmune diseases. To further investigate whether this polymorphism may be a general susceptibility factor for autoimmunity, we performed an association study in five different autoimmune diseases, three previously not tested. We found an association with juvenile idiopathic arthritis (OR ¼ 1.41; P ¼ 0.04), not previously reported, and a tendency for an association with coeliac disease (OR ¼ 1.35; P ¼ 0.08). In primary sclerosing cholangitis, no association was observed (OR ¼ 0.95; P ¼ 0.8). Furthermore, we confirmed the increased risk in rheumatoid arthritis (OR ¼ 1.58; P ¼ 0.001), but could not find support for an association with systemic lupus erythematosus (OR ¼ 0.94; P ¼ 0.8). Altogether, we have provided further evidence of an association between autoimmune diseases and the 1858C4T polymorphism in PTPN22.
ObjectivesMusculoskeletal ultrasonography (US) has the potential to be an important tool in the assessment of disease activity in childhood arthritides. To assess pathology, clear definitions for synovitis need to be developed first. The aim of this study was to develop and validate these definitions through an international consensus process.
MethodsThe decision on which US techniques to use, the components to be included in the
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Sonographic Definitions for Synovitis in Children 3
Significance and InnovationsMusculoskeletal Ultrasonography is an important tool for the clinical assessment and research in childhood arthritides Precise definitions for synovitis on ultrasonography in children are an essential prerequisite for the reliable use of this technology in the pediatric age group Ultrasonographic definitions for synovitis in children were developed and validated for the first time through an international consensus process
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