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

To describe a 3-generation family carrying a novel TNFAIP3 truncating variant (p.Gly440*) and to highlight the wide clinical spectrum of Haploinsufficiency of A20 (HA20). We reviewed clinical histories and laboratory findings including genetic testing, in family members across 3 generations. Gene panel testi...