TYK2:p.Pro1104Ala variant protects against autoimmunity by modulating
immune cell levels
Abstract
The TYK2:p.Pro1104Ala (rs34536443) hypomorph variant has been
associated with protection against numerous autoimmune disorders. Thus,
its mechanism of action becomes of great interest. Here, consistent with
the participation of activated immune cells in autoimmunity, we show
that the variant regulates the levels of immune cells, and is associated
particularly with higher levels of T and B lymphocytes, and especially
the naïve (non-activated) compartment. Also, consistent with a
protective function in autoimmunity, regulatory CD4+ T cell level was
increased. Thus, this variant decreases the immune activation,
protecting from autoimmunity. Our work identifies the cellular mechanism
regulated by the TYK2:p.Pro1104Ala variant and supports TYK2 as a
therapeutic target in autoimmunity.