Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) comprises
granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and eosinophilic …

STING-associated vasculopathy with onset in infancy (SAVI) is a type I interferonopathy
caused by gain-of-function mutations in STING1 encoding stimulator of interferon genes …

Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic
dermatosis with lipodystrophy and elevated temperature/proteasome-associated …

Mendelian autoinflammatory diseases characterized by constitutive activation of the type I
interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding …

Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of
the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy …

Type I interferon (IFN-I) mediates tissue damage in a wide range of kidney disorders, directly
affecting the biology and function of several renal cell types including podocytes, mesangial …

Gain-of-function mutations in STING cause STING-associated vasculopathy with onset in
infancy (SAVI) characterized by early-onset systemic inflammation, skin vasculopathy, and …

Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic
defects that functionally impact the development and/or function of the innate and/or …

The cGAS-cGAMP-STING pathway is an important innate immune signaling cascade
responsible for the sensing of abnormal cytosolic double-stranded DNA (dsDNA), which is a …

The human genome project led to the advancement of genetic technologies and genomic
medicine for a variety of human diseases, including monogenic autoimmune and …