Results 11 to 20 of about 171,535 (264)
The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases [PDF]
Frontiers in Medicine, 2022 ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture ...
Carla Gaggiano +103 more
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Rare Autoinflammatory Diseases
Turkish Archives of Pediatrics, 2021 Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
Başaran, Özge +2 more
openaire +3 more sources
Swiss Medical Weekly, 2012 The monogenic autoinflammatory syndromes are conditions caused by mutations of genes coding for proteins that play a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these disorders have an early onset.
S Federici, R Caorsi, M Gattorno
openaire +5 more sources
Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases [PDF]
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 +3 more sources
Elucidation of the Pathogenesis of Autoinflammatory Diseases Using iPS Cells
Children, 2021 Autoinflammatory diseases are a disease entity caused by the dysregulation of innate immune cells. Typical autoinflammatory diseases are monogenic disorders and often very rare.
Megumu K. Saito
doaj +2 more sources
Childhood versus adulthood-onset autoinflammatory disorders: myths and truths intertwined [PDF]
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 +2 more sources
Inflammasomes: Mechanisms of Action and Involvement in Human Diseases
Cells, 2023 Inflammasome complexes and their integral receptor proteins have essential roles in regulating the innate immune response and inflammation at the post-translational level.
Dimitri Bulté +3 more
doaj +1 more source
Management of Mevalonate Kinase Deficiency: A Pediatric Perspective
Frontiers in Immunology, 2020 Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by recurrent inflammation. This clinically manifests itself as fever and can be accompanied by gastrointestinal symptoms, oral ulcers ...
Jerold Jeyaratnam, Joost Frenkel
doaj +1 more source
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features
Biomolecules, 2021 Majeed syndrome is a multi-system inflammatory disorder affecting humans that presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anemia, with or without a neutrophilic dermatosis.
Polly J. Ferguson, Hatem El-Shanti
doaj +1 more source
Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus
Frontiers in Immunology, 2022 One of the oldest mechanisms of immune defense against pathogens is through detection of foreign DNA. Since human DNA is compartmentalized into the nucleus, its presence in the cytosol heralds a potential threat. The cGAS-STING pathway is one of the most
Holly Wobma +3 more
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