The past few years have provided important insights into the genetic architecture of systemic
autoimmunity through aggregation of findings from genome-wide association studies …

Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-
kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a …

Type 1 diabetes (T1D) is a polygenic disease and does not follow a mendelian pattern.
Inborn errors of immunity (IEIs), on the other hand, are caused by damaging germline …

Common variable immunodeficiency (CVID) represents the largest group of primary
immunodeficiencies that may manifest with infections, inflammation, autoimmunity, and …

Activated PI3K-kinase Delta Syndrome (APDS) is an autosomal-dominant primary
immunodeficiency (PID) caused by the constitutive activation of the PI3Kδ kinase. The …

Purpose The transmembrane protein CD37 is expressed almost exclusively in lymphoid
tissues, with the highest abundance in mature B cells. CD37-directed antibody-and, more …

Background Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel
inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ …

Systemic lupus erythematosus is a rare and life-threatening autoimmune disease
characterized by autoantibodies against double-stranded DNA, with an immunopathology …

Better treatment of autoimmune diseases requires an improved understanding of the cellular
and molecular mechanisms that lead to the breakdown of immune tolerance. The discovery …

Monogenic lupus: insights into disease pathogenesis and ther... : Current Opinion in
Rheumatology Monogenic lupus: insights into disease pathogenesis and therapeutic …