Autosomal dominant Hashimoto’s thyroiditis with a mutation in TNFAIP3

Hashimoto’s thyroiditis (HT) is an autoimmune thyroid disease thought to develop through a combination of genetic and environmental factors; however, its detailed pathogenesis remains unknown. Recently Zhou et al. revealed that a familial early-onset autoinflammatory disease resembling Behcet’s disease (BD) inherited in an autosomal dominant manner was caused by haploinsufficiency of the gene encoding tumor necrosis factor α-induced protein 3 (TNFAIP3, also known as A20) (1). A20 is a negative regulator of multiple intracellular immune signaling pathways, including tumor necrosis factor-α (TNF-α) signaling. In this study, patients from a family with haploinsufficiency of A20 (HA20) who developed HT by autosomal dominant inheritance are reported.