Lujain Alahmadi

A Novel TNFAIP3 Truncating Variant in a Multigenerational Family with Haploinsufficiency of A20: Expanding the Disease Spectrum from Subclinical Inflammation to Autoimmune Endocrinopathy

A novel truncating variant in TNFAIP3 causing HA20 in a multigenerational family is reported, in line with the current literature and demonstrates the phenotypic variability of HA20 even within the same family, ranging from silent inflammation to Behçet-like disease to organ-specific autoimmunity.