Results 11 to 20 of about 178,684 (248)
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
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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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Autoinflammatory keratinization diseases [PDF]
Journal of Allergy and Clinical Immunology, 2017 Inflammation caused by the hyperactivation of innate immunity due to genetic factors occasionally leads to inflammatory cutaneous keratinization diseases. Such inflammatory keratinization diseases with genetic autoinflammatory mechanisms are called “autoinflammatory keratinization diseases” (AiKDs). We proposed a four-part definition of AiKDs.
Akiyama, Masashi +3 more
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Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis
Hepatology, EarlyView., 2022 Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis. Abstract Background and Aims Nucleotide‐binding oligomerization domain‐like receptor‐family pyrin domain‐containing 3 (NLRP3) inflammasome activation has been shown to result in liver fibrosis.
Jana Knorr +19 more
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Rheumato, 2023 Three years after its emergence, coronavirus disease 2019 (COVID-19) continues to be a leading cause of worldwide morbidity and mortality. This systematic review comprises relevant case reports that discuss non-multisystem inflammatory syndrome in ...
Antoine Fakhry AbdelMassih +26 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
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Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses. [PDF]
, 2014 BackgroundIncreased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene.
Ashwood, Paul +5 more
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Frontiers in Immunology, 2018 TNFAIP3 encodes the NF-κB regulatory protein A20. High-penetrance heterozygous mutations in TNFAIP3 cause a haploinsufficiency of A20 (HA20), inadequate inhibition of NF-κB pathway, and an early onset autoinflammatory disorder.
Dylan Lawless +6 more
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Clinical & Translational Immunology, 2021 FIRES (febrile infection‐related epilepsy syndrome) is a protracted neuroinflammatory condition of obscure cause. It mainly afflicts school‐age children and often leads to permanent neurological sequelae.
Wei‐Sheng Lin, Ting‐Rong Hsu
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Autoinflammatory Syndromes [PDF]
Dermatologic Clinics, 2013 Autoinflammatory syndromes comprise a diagnostically challenging group of systemic inflammatory disorders uniquely related by (1) dysregulation of innate immunity, (2) inflammasome activation, (3) dramatic clinical features (high fevers, neutrophilic rashes, and bone or synovial involvement), (4) impressive acute phase responses, and (5) effective ...
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