Results 71 to 80 of about 157,940 (239)
Arthritis &Rheumatology, EarlyView.Objective Mitochondria are organelles with a hypomethylated circular genome. Mitochondrial DNA (mtDNA) in the systemic circulation has been implicated in inflammation. This study investigates the role of circulating DNA in systemic sclerosis (SSc) and the cellular mechanisms governing its release.
Stavros Giaglis +9 more
wiley +1 more source
Autoinflammatory diseases in Pediatrics
Archivos Argentinos de Pediatria, 2013 Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical
Silvia M, Meiorin +2 more
openaire +4 more sources
Childhood versus adulthood-onset autoinflammatory disorders: myths and truths intertwined
Reumatismo, 2013 Autoinflammatory disorders are characterized by spontaneous episodes of systemic inflammation deriving from inherited defects of the innate immune system.
L. Cantarini +9 more
doaj +1 more source
Arthritis &Rheumatology, EarlyView.Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong +9 more
wiley +1 more source
Frontiers in MedicineIntroductionNon-infectious inflammatory ocular diseases pose significant challenges in diagnosis and management, often requiring systemic immunosuppressive therapy.
Antonio Vitale +31 more
doaj +1 more source
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. [PDF]
, 2015 PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown.
Bedoni, N. +6 more
core +3 more sources
Autoinflammatory Diseases: Emerging Phenotypes
Indian Journal of Rheumatology, 2020 Autoinflammatory diseases (AIDs) are a heterogeneous group of genetically inherited disorders involving genes regulating innate immune response. The genetic basis of several AIDs has been characterized and many new syndromes have been identified in the past few years. This review focuses on some of the common AIDs encountered in clinical practice.
Gummadi Anjani, Surjit Singh, Amit Rawat
openaire +2 more sources
Genetically defined autoinflammatory diseases [PDF]
Oral Diseases, 2016 Autoinflammatory diseases are hyperinflammatory, immune dysregulatory conditions that typically present in early childhood with fever and rashes and disease‐specific patterns of organ inflammation. This review provides a historic background of autoinflammatory disease research, an overview of the currently genetically defined autoinflammatory diseases,
A A, de Jesus, R, Goldbach-Mansky
openaire +2 more sources
Arthritis &Rheumatology, EarlyView.Objective The unknown pathophysiology and the lack of specific features for systemic juvenile idiopathic arthritis and adult‐onset Still disease (collectively known as Still disease; SD) delay diagnosis and appropriate treatment. The goal of this study was to identify features and mechanisms that distinguish SD from other systemic autoinflammatory ...
Yvonne M. Mueller +16 more
wiley +1 more source
Diagnostic dilemma in autoinflammatory disease in two patients: does the name matter?
The Turkish Journal of Pediatrics, 2013 The systemic autoinflammatory diseases are inflammatory disorders characterized by uncontrolled inflammation of the innate immune system. A common monogenic autoinflammatory disease is familial Mediterranean fever (FMF), associated with mutations ...
Bora Gülhan +3 more
doaj