The complement system comprises several fluid-phase and membrane-associated proteins.
Under physiological conditions, activation of the fluid-phase components of complement is …

The major histocompatibility complex (MHC) is one of the most extensively studied regions
in the human genome because of the association of variants at this locus with autoimmune …

The HLA region encodes several molecules that play key roles in the immune system.
Strong association between the HLA region and autoimmune disease (AID) has been …

Abstract Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21
produces the different disease spectrum observed in people with DS are unknown. We …

Our understanding of the genetic basis of systemic lupus erythematosus (SLE) has been
rapidly advanced using large-scale, case–control, candidate gene studies as well as …

Systemic lupus erythematosus, a prototypical systemic autoimmune disease, is the result of
a series of interactions within the immune system that ultimately lead to the loss of self …

An estimated 10% to 20% of patients experience the onset of systemic lupus erythematosus
(SLE) before adulthood. More precise estimates are difficult due to a lack of a clear age limit …

The complement system consists of about 35–40 proteins and glycoproteins present in
blood plasma or on cell surfaces. Its main biological function is to recognise “foreign” …

Complement deficiencies comprise between 1 and 10% of all primary immunodeficiencies
(PIDs) according to national and supranational registries. They are still considered rare and …

Many endocrine diseases, including type 1 diabetes mellitus, Graves disease, Addison
disease and Hashimoto disease, originate as an autoimmune reaction that affects disease …