Autoimmunity, Autoinflammation, and Infection in Uveitis [PDF]
To review the pathogenesis of uveitis in light of recent advances in our understanding of innate and adaptive immune responses and their regulation.Perspective.Methods included a review of prevailing views on the pathogenesis of uveitis and an analysis of developments in immunology that impact on its conceptual basis, particularly the concept of ...
John V. Forrester +2 more
openaire +5 more sources
Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency. [PDF]
The last decades have brought a rapid expansion of the number of primary disorders related to the polyubiquitination pathways in humans. Most of these disorders manifest with two seemingly contradictory clinical phenotypes: autoinflammation ...
Spaan AN, Boisson B, Masters SL.
europepmc +2 more sources
Imaging of Joints and Bones in Autoinflammation [PDF]
Autoinflammatory disorders are commonly characterized by seemingly unprovoked systemic inflammation mainly driven by cells and cytokines of the innate immune system. In many disorders on this spectrum, joint and bone involvement may be observed and imaging of these manifestations can provide essential diagnostic information.
Katharina Ziegeler +3 more
openaire +2 more sources
Autoinflammation: From monogenic syndromes to common skin diseases [PDF]
Autoinflammation is characterized by aberrant regulation of the innate immune system and often manifests as periodic fevers and systemic inflammation involving multiple organs, including the skin. Mutations leading to abnormal behavior or activity of the
Nguyen, Tien V +5 more
core +1 more source
Gene hunting in autoinflammation
AbstractSteady progress in our understanding of the genetic basis of autoinflammatory diseases has been made over the past 16 years. Since the discovery of the familial Me diterranean f ev er gene MEFV (also known as marenostrin) in 1997, 18 other genes responsible for monogenic autoinflammatory diseases have been identified to date.
Standing, Ariane +2 more
openaire +2 more sources
The burgeoning field of innate immune-mediated disease and autoinflammation. [PDF]
Immune-mediated autoinflammatory diseases are occupying an increasingly prominent position among the pantheon of debilitating conditions that afflict mankind.
Scambler, T +3 more
core +1 more source
Autoinflammation and autoimmunity across rheumatic and musculoskeletal diseases
Most rheumatic and musculoskeletal diseases (RMDs) can be placed along a spectrum of disorders, with autoinflammatory diseases (including monogenic systemic autoinflammatory diseases) and autoimmune diseases (such as systemic lupus erythematosus and ...
Szekanecz, Zoltán +5 more
core +1 more source
Inflammation, Autoinflammation and Autoimmunity in Inflammatory Bowel Diseases [PDF]
In this review, the role of innate and adaptive immunity in the pathogenesis of inflammatory bowel diseases (IBD) is reported. In IBD, an altered innate immunity is often found, with increased Th17 and decreased Treg cells infiltrating the intestinal ...
Giulia Musso +3 more
core +1 more source
Adult-onset autoinflammation caused by somatic mutations in UBA1:A Dutch case series of patients with VEXAS [PDF]
Background: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were characterized by adult-onset, treatment-refractory inflammation with fever, cytopenia,
Heijstek, Marloes +51 more
core +1 more source
Janus kinase inhibition for autoinflammation in DNASE2 deficiency [PDF]
We characterise the immunopathogenesis of autoinflammation, HLH, and early onset intestinal inflammation caused by homozygous mutation in DNASE2, and provide the first description of favourable therapeutic response to JAK1/JAK2 blockade in this ...
Bader-Meunier, B +21 more
core +1 more source

