Data from: Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by PhIP-Seq

The identification of autoantigens remains a critical challenge for
understanding and treating autoimmune diseases. Autoimmune polyendocrine
syndrome type 1 (APS1), a rare monogenic form of autoimmunity, presents as
widespread autoimmunity with T and B cell responses to multiple organs.
Importantly, autoantibody discovery in APS1 can illuminate fundamental
disease pathogenesis, and many of the antigens found in APS1 extend to
common autoimmune diseases. Here, we performed proteome-wide programmable
phage-display (PhIP-Seq) on sera from an APS1 cohort and discovered
multiple common antibody targets. These novel autoantigens exhibit
tissue-restricted expression, including expression in enteroendocrine
cells and dental enamel. Using detailed clinical phenotyping, we find
novel associations between autoantibodies and organ-restricted
autoimmunity, including between anti-KHDC3L autoantibodies and premature
ovarian insufficiency, and between anti-RFX6 autoantibodies and
diarrheal-type intestinal dysfunction. Our study highlights the utility of
PhIP-Seq for interrogating antigenic repertoires in human autoimmunity and
the importance of antigen discovery for improved understanding of disease
mechanisms.