Health is usually defined as the absence of pathology. Here, we endeavor to define health
as a compendium of organizational and dynamic features that maintain physiology. The …

Most rheumatic and musculoskeletal diseases (RMDs) can be placed along a spectrum of
disorders, with autoinflammatory diseases (including monogenic systemic autoinflammatory …

Immune and inflammatory responses to severe acute respiratory syndrome coronavirus 2
(SARS-CoV-2) contribute to disease severity of coronavirus disease 2019 (COVID-19) …

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome | Blood | American Society of
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Background A novel autoinflammatory syndrome was recently described in male patients
who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were …

Ubiquitylation is an essential post-translational modification that regulates intracellular
signalling networks by triggering proteasomal substrate degradation, changing the activity of …

A hyperinflammatory 'cytokine storm'state termed macrophage activation syndrome (MAS),
culminating from a complex interplay of genetics, immunodeficiency, infectious triggers and …

Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

A growing number of monogenic immune-mediated diseases have been related to genes
involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate …

Vasculitis is an inflammatory disorder of the blood vessels that causes damage to a wide
variety of organs through tissue ischemia. Vasculitis is classified according to the size (large …