Conformational Plasticity of HLA-B27 Molecules Correlates Inversely With Efficiency of Negative T Cell Selection [PDF]
, 2020 The development of autoimmune disorders is incompletely understood. Inefficient thymic T cell selection against self-peptides presented by major histocompatibility antigens (HLA in humans) may contribute to the emergence of auto-reactive effector cells ...
Loll, Bernhard +3 more
core +1 more source
Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases
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 +1 more source
The Turkish Journal of Pediatrics, 2023 Background. Gain-of-function mutations of the NLR family pyrin domain containing 3 (NLRP3) gene have been implicated in autoinflammatory diseases. The NLRP3 Q703K variant is a common variant associated with Cryopyrin-associated periodic syndromes (
Yasemin Kendir-Demirkol +3 more
doaj +1 more source
Urinary CE-MS peptide marker pattern for detection of solid tumors [PDF]
, 2018 Urinary profiling datasets, previously acquired by capillary electrophoresis coupled to mass-spectrometry were investigated to identify a general urinary marker pattern for detection of solid tumors by targeting common systemic events associated with ...
Belczacka, Iwona +8 more
core +2 more sources
Clinical and functional characterisation of a novel TNFRSF1A c.605T > A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. [PDF]
, 2008 Objectives: To study the clinical outcome, treatment response, T-cell subsets and functional consequences of a novel tumour necrosis factor (TNF) receptor type 1 (TNFRSF1A) mutation affecting the receptor cleavage site.
B H Belohradsky +7 more
core +1 more source
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases
Mediators of Inflammation, 2019 Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity characterized by systemic inflammation recurring with variable frequency and involving the skin, serosal membranes, synovial membranes, joints, the gastrointestinal tube,
Carla Gaggiano +11 more
doaj +1 more source
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 +4 more sources
Severe osteoarticular involvement in isotretinoin-triggered acne fulminans: two cases successfully treated with anakinra. [PDF]
, 2017 Acne fulminans (AF) is a severe form of inflammatory and ulcerated acne associated with fever, malaise, joint swellings and polyarthralgia.1 Osteoarticular lesions are often described and can be radiologically indistinguishable from those observed in
Barbareschi +9 more
core +1 more source
Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases
Frontiers in Immunology, 2022 The concept of autoinflammation, first proposed in 1999, refers to a seemingly unprovoked episode of sterile inflammation manifesting as unexplained fever, skin rashes, and arthralgia.
Takayuki Tanaka +8 more
doaj +1 more source
Development of the autoinflammatory disease damage index (ADDI) [PDF]
, 2016 OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies.
Al-Mayouf, SM +48 more
core +4 more sources