Systemic lupus erythematosus (SLE) is a prime example of how the interplay between
genetic and environmental factors can trigger systemic autoimmunity, particularly in young …

Five mammalian Toll-like receptors (TLR 3, 7, 8, 9, and 13) recognize nucleic acids (NA) and
induce signals that control the function of multiple immune cell types and initiate both innate …

The ability to mount an interferon-mediated innate immune response is essential in
protection against neurotropic viruses, but antiviral type I interferons also have neurotoxic …

Primary Sjögren's disease (pSD) is a systemic autoimmune disease that has the strongest
female predilection of all autoimmune diseases. The underlying mechanisms that govern …

Over the past two decades, the number of genetically defined autoinflammatory
interferonopathies has steadily increased. Aicardi–Goutières syndrome and proteasome …

Immune-mediated diseases are common in humans. The immune system is a complex host
defense system that evolved to protect us from pathogens, but also plays an important role in …

An improved understanding of genetic variation and epigenetic marks explain phenotypic
differences between age-groups and ancestries, promising their future exploitation for …

The aim of this study was to explore the impact of rare and ultra‐rare genetic variants on the
understanding and treatment of autoimmune and autoinflammatory diseases with a focus on …

Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterized by
loss of tolerance to nuclear antigens. The formation of autoantibodies and the deposition of …

During the past year, four studies have reported ten mutations in UNC93B1, which encodes
the Toll-like receptor (TLR) chaperone protein UNC93B1. All variants increased TLR7 and …