Autoinflammatory disease
Eating Disorders, Autoimmune, and Autoinflammatory Disease
... and autoinflammatory disease were calculated in a similar manner, with eating disorder status as a time- dependent exposure ...and autoinflammatory diseases in family members was evaluated by ...
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A new category of autoinflammatory disease associated with NOD2 gene mutations
... the disease were Caucasians, with four being male. The mean age at disease onset was ...and disease duration was ...new disease category of autoinflammatory disease with ...
5
Reduced serpinB9-mediated caspase-1 inhibition can contribute to autoinflammatory disease
... Patient was a 6 year old male with AID, recurrent episodes of high fever and generalized inflammation as reflected by elevated acute phase proteins in the absence of infection. He was therefore diagnosed with ...
7
Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β
... systemic autoinflammatory diseases associated with increased IL-1 ...tary autoinflammatory disorders. We have now identified an autoinflammatory disease in mice driven by IL-18, but not ...
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Munchausen by proxy syndrome mimicking systemic autoinflammatory disease: case report and review of the literature
... We report the case of a 3 year old Caucasian boy who first developed erythematous patches distributed over the whole body at the age of 5 months (Fig. 1). A skin biopsy was performed, showing faint polymorphonuclear ...
5
Autoinflammatory granulomatous diseases: from Blau syndrome and early onset sarcoidosis to NOD2 mediated disease and Crohn's disease
... s disease (CD), a common polygenic inflammatory granulomatous bowel ...-associated autoinflammatory disease, which shares several clinical characteristics with BS and ...of autoinflammatory ...
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An autoinflammatory neurological disease due to interleukin 6 hypersecretion
... chronic disease characterized by meningitis, progressive hearing loss, persistently raised inflammatory markers and diffuse leukoencephalopathy on brain ...an autoinflammatory disease prompted us to ...
10
The patient journey to diagnosis and treatment of autoinflammatory diseases
... Our work highlights the need for an efficient and timely diagnosis of AIDs. Because the field of autoinflammation is relatively new and the diseases are rare, it is important to educate primary care providers to ...
7
Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report
... anomaly that had been previously found in a child with Blau syndrome (P268S) [5, 7, 10]. Early-onset sarcoidosis (EOS) was also considered during the dif- ferential, although in line with currently used classifi- cation ...
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Spontaneous inflammatory pain model from a mouse line with N-ethyl-N-nitrosourea mutagenesis
... causes autoinflammatory disease in mice has been reported ...The disease caused a gain- of-function mutation in Plcg2, leading to hyperactive external calcium entry in B cells and an expansion of in- ...
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Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review
... ADDI: Autoinflammatory disease damage index; AGS: Aicardi-Goutieres syndrome; ARDS: Acute respiratory distress syndrome; CAPS: Cryopyrin- associated periodic syndromes; CINCA syndrome: Chronic infantile ...
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Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis
... Interleukin 1 (IL-1) helps coordinate the immune system’s early response to exogenous and endogenous danger, serving as a prototypic alarm cytokine. Increased production of IL-1 is thought to be a fundamental com- ponent ...
9
Practice and consensus-based strategies in diagnosing and managing systemic juvenile idiopathic arthritis in Germany
... The SJIA project group was initiated in October 2015. Altogether, 11 experienced pediatric rheumatologists participated in several online surveys and five telephone conferences. They collected and analyzed the ...
14
Current perspectives on the interleukin 1 family as targets for inflammatory disease
... cardiovascular disease settings, will likely prompt further investigations, as more information con- cerning the role of IL-1 in cardiovascular pathology is ...
15
A national cohort study on pediatric Behçet’s disease: cross-sectional data from an Italian registry
... the highest frequency in Tunisia (32.1%) [15], much higher when compared to our series (1.8%). Vascular involvement has a wide range (5-40%) in the literature and this could be due to the difference between reference ...
7
Autoinflammatory diseases: a possible cause of thrombosis?
... Auto-inflammatory diseases (AIDs) are a group of disorders, pathophysiologically characterized by ac- quired or hereditary defects of innate immune system and clinically by systemic and/or localized, chronic or recurrent ...
8
Developments in the scientific and clinical understanding of autoinflammatory disorders
... inflammatory disease in patients who develop amyloidosis is about 20 years, and the life-long nature of inherited periodic fever syndromes is presumably a factor in the high prevalence of amyloid in these ...
10
The role of S100 proteins in the pathogenesis and monitoring of autoinflammatory diseases
... Hypersecretion of S100 proteins can result in a sterile inflammatory environment, which triggers proinflamma- tory cytokine as well as further S100 expression [9, 15] (Fig. 1). During inflammatory attacks, serum levels ...
5
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
... intermittent disease exacerbations (Supplemental Tables 14 and ...renal disease, the copy number in the other patients was low and variable, with stable low- copy-number viremia and stable renal function ...
13
Effects of the Histone Deacetylase Inhibitor ITF2357 in Autoinflammatory Syndromes
... tients with severe active disease (one or more attack every 8 wks or continuous symptoms) were included. The local ethi- cal committee gave permission for the study, and all patients gave written in- formed ...
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