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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
exaly +3 more sources
Autoinflammatory Bone Diseases [PDF]
Rheumatic Disease Clinics of North America, 2013 Autoinflammatory bone disease is a new branch of autoinflammatory diseases caused by seemingly unprovoked activation of the innate immune system leading to an osseous inflammatory process. The inflammatory bone lesions in these disorders are characterized by chronic inflammation that is typically culture negative with no demonstrable organism on ...
Polly J Ferguson
exaly +3 more sources
Frontiers in Immunology, 2021 Objectives: We theorized that myelodysplastic syndrome (MDS) with somatic mutations and karyotype abnormalities are associated with autoinflammation, and that the presence of autoinflammatory disease affected prognosis in MDS.Methods: One hundred thirty ...
Abdulla Watad +2 more
exaly +3 more sources
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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Macroglobulinemia and autoinflammatory disease [PDF]
Rheumatology and Immunology Research, 2021 Abstract Macroglobulinemia is associated with Schnitzler syndrome (SchS) and Waldenstrom macroglobulinemia (WM). The aim of this article was to review the above-mentioned two diseases from clinical aspects and their potential genetic links. We performed a PubMed search using the following keywords: “SchS,” “WM,” “autoinflammatory disease,
Navetta-Modrov, Brianne, Yao, Qingping
openaire +2 more sources
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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