Results 21 to 30 of about 147,251 (203)
Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases
Frontiers in Immunology, 2017 Autoinflammatory disease was introduced as a concept in 1999, demarcating an entirely new group of diseases in clinical, immunological, and conceptual terms.
Per Wekell +6 more
doaj +1 more source
The Turkish Journal of Pediatrics, 2023 Background. Gain-of-function mutations of the NLR family pyrin domain containing 3 (NLRP3) gene have been implicated in autoinflammatory diseases. The NLRP3 Q703K variant is a common variant associated with Cryopyrin-associated periodic syndromes (
Yasemin Kendir-Demirkol +3 more
doaj +1 more source
Monogenic autoinflammatory diseases [PDF]
Rheumatology, 2014 During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system.
Ricardo A G, Russo, Paul A, Brogan
openaire +2 more sources
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases
Mediators of Inflammation, 2019 Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity characterized by systemic inflammation recurring with variable frequency and involving the skin, serosal membranes, synovial membranes, joints, the gastrointestinal tube,
Carla Gaggiano +11 more
doaj +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
Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases
Frontiers in Immunology, 2022 The concept of autoinflammation, first proposed in 1999, refers to a seemingly unprovoked episode of sterile inflammation manifesting as unexplained fever, skin rashes, and arthralgia.
Takayuki Tanaka +8 more
doaj +1 more source
Cutaneous manifestations of autoinflammatory diseases [PDF]
Rheumatology and Immunology Research, 2021 Abstract Autoinflammatory diseases (AIDs) are a heterogeneous group of disorders in which recurrent or continuous aseptic inflammation arises primarily through antigen-independent hyperactivation of the innate immune system. The skin is frequently involved with a wide variety of cutaneous manifestations, most of which are non-specific ...
Wu, Di, Shen, Min, Yao, Qingping
openaire +2 more sources
Frontiers in Neurology, 2022 Macrophages play important roles in tissue homeostasis and inflammation. Recent studies have revealed that macrophages are dispersed in the inner ear and may play essential roles in eliciting an immune response.
Toru Miwa, Toru Miwa, Takayuki Okano
doaj +1 more source
Galantamine attenuates autoinflammation in a mouse model of familial mediterranean fever
Molecular Medicine, 2022 Background Autoinflammatory diseases, a diverse group of inherited conditions characterized by excessive innate immune activation, have limited therapeutic options.
Ibrahim T. Mughrabi +10 more
doaj +1 more source
Insights into Imaging, 2020 Purpose 1. To review the contemporary literature and present a list of the imaging findings for patients with autoinflammatory diseases from our hospital. All these patients are found to have a genetic mutation that is responsible for their disease.
Alaa N. Alsharief +6 more
doaj +1 more source