Researchers identify gene variant involved in new inflammatory disorder

NHGRI researchers have identified a new childhood-onset disorder they've named Haploinsufficiency of A20 (HA20) that presents with general inflammation, including fevers, mouth and genital ulcers, and arthritis. The disease results from a variant of a gene (NF-kB regulatory protein TNFAIP3 (A20)) that regulates how the immune system responds to inflammation, infection and trauma. Published Dec. 7 in the advance online Nature Genetics.
Source: NHGRI Homepage Highlights - Category: Genetics & Stem Cells Source Type: news