Results 1 to 10 of about 178,684 (248)
Systemic autoinflammatory diseases
Journal of Autoimmunity, 2020 Systemic autoinflammatory diseases (SAIDs) are a growing group of disorders caused by a dysregulation of the innate immune system leading to episodes of systemic inflammation. In 1997, MEFV was the first gene identified as disease causing for Familial Mediterranean Fever, the most common hereditary SAID.
Julie Krainer, Andreas Weinhaeusel
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Systemic autoinflammatory disorders: autoinflammatory and autoimmune disorders [PDF]
Clinical and Experimental Pediatrics, 2023 Young Dae Kim
doaj +3 more sources
Autoinflammatory syndromes [PDF]
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2021 SummaryAutoinflammatory syndromes are a steadily growing group of inflammatory diseases caused by abnormal regulations of the innate immune system. The clinical presentation is multifaceted, but recurrent fever, skin involvement, joint inflammation and other systemic symptoms of inflammation are characteristic.
Meier‐Schiesser, Barbara +1 more
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Frontiers in Pediatrics, 2023 Type I interferonopathies are a broad category of conditions associated with increased type I interferon gene expression and include monogenic autoinflammatory diseases and non-Mendelian autoimmune diseases such as dermatomyositis and systemic lupus ...
Samuel Gagne +4 more
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Global Medical Genetics, 2023 VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem
Zhang Zhang, Dong Dong, Wang Wang
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Schnitzler syndrome refractory to anakinra: successful treatment with canakinumab
Journal of Dermatological Treatment, 2023 Schnitzler syndrome (SchS) is a rare autoimmune and inflammatory disease mediated by interleukin-1 beta (IL-1β). Recurrent monoclonal gammopathy and chronic urticarial rash are the symptoms required for diagnosis according to the Strasbourg criteria. The
Angel Luis Salcedo-Mingoarranz +4 more
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Implications of combined NOD2 and other gene mutations in autoinflammatory diseases
Frontiers in Immunology, 2023 NOD-like receptors (NLRs) are intracellular sensors associated with systemic autoinflammatory diseases (SAIDs). We investigated the largest monocentric cohort of patients with adult-onset SAIDs for coinheritance of low frequency and rare mutations in ...
Hafsa Nomani +8 more
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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
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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
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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 +2 more sources