Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4
Frontiers in Immunology, 2023 We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in IRAK4.
Sang-Dun Choi
exaly +3 more sources
Severe Gout During Arsenic Therapy: Insights on Oxidative Stress and Interleukin-1β in Gout. [PDF]
ACR Open RheumatolWe report a 49‐year‐old male patient with a normal serum uric acid and recent diagnosis of acute promyelocytic leukemia (APL) who developed a severe polyarticular gout flare during treatment with arsenic trioxide (ATO). Unlike conventional chemotherapies, ATO acts through the generation of reactive oxygen species (ROS), leading to APL cell apoptosis ...
Hamilton J, Alexander A.
europepmc +2 more sources
Serum Proteomic Profiling Uncovers Dysregulated Keratinisation and Immune-Related Pathways in Hidradenitis Suppurativa. [PDF]
Exp DermatolABSTRACT Hidradenitis suppurativa (HS) is an autoinflammatory keratinisation disease affecting the pilosebaceous unit and hallmarked by a complex and multifactorial pathogenesis. Although genomic and transcriptomic investigations have substantially advanced our understanding of key mechanisms underlying HS pathogenesis, proteomic studies remain limited,
Moltrasio C +9 more
europepmc +2 more sources
UCP2 inhibition eliminates pancreatic β cell autoinflammation in T2DM with islet-mitochondrial sequential targeting nanomedicines [PDF]
Nature CommunicationsPancreatic β-cell dysfunction and mass loss are core pathologies of type 2 diabetes mellitus (T2DM), which are closely related to intense autoinflammation. However, the molecular mechanisms regulating β-cell autoinflammation remain unclear. Here, we show
Zerun Liu +14 more
doaj +2 more sources
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
core +7 more sources
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
Genome Medicine, 2021 Background The interleukin (IL)-1 pathway is primarily associated with innate immunological defense and plays a major role in the induction and regulation of inflammation.
Rosanne C. van Deuren +13 more
doaj +1 more source
Pediatric Rheumatology Online Journal, 2022 Background A significant number of patients in pediatric rheumatology suffer from ongoing disease activity into adulthood and thus need to be transferred into adult care.
Luca Samuel Boeker +5 more
doaj +1 more source
Dermatopathology, 2021 Autoinflammation is defined by aberrant, antigen-independent activation of the innate immune signaling pathways. This leads to increased, pro-inflammatory cytokine expression and subsequent inflammation.
Athanassios Kolivras +3 more
doaj +1 more source
The link between rheumatic disorders and inborn errors of immunity
EBioMedicine, 2023 Summary: Inborn errors of immunity (IEIs) are immunological disorders characterized by variable susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of damaging germline variants in single genes.
Georgios Sogkas, Torsten Witte
doaj +1 more source
TRAP1 chaperone protein mutations and autoinflammation
Life Science Alliance, 2020 This study identifies patients with autoinflammation and mutations affecting the mitochondrial/ER protein chaperone TRAP1, either alone or digenic, with MEFV mutation possibly synergizing to produce severe disease.
Ariane SI Standing +13 more
doaj +1 more source