hrp0098p2-317 | Late Breaking | ESPE2024

A case of A20 haploinsufficiency and type 1 diabetes mellitus in an infant

Kondo Daiki , Wada Yasunori , Shimodate Ai , Yoshida Taro , Oikawa Keisuke , Akasaka Manami

Background: A20 (HA20) haploinsufficiency is a disease that causes persistent inflammation throughout the body due to a deficiency of the A20 protein, which suppresses the production of inflammatory cytokines such as TNF-α. It was first reported in 2016 as an inherited autoinflammatory disease with Behcet's disease-like symptoms that develops at a young age and has been reported to be associated with autoimmune diseases such as Hashimoto's dise...