How Rare is Rare? TNFAIP3 Variants and the High Collective Burden of Haploinsufficiency
Danica M. Lee, Urekha Karri, Charlotte Vera Cuff, Priyamvada Guha Roy, Kader Cetin Gedik, Josh Owens, Manuel Carpio Tumba, Sam Chiang, Prabbal Chhibbar, Hey Chong, MD, PhD, Michael Ero, Kyr Goyette, Akuti Kethri, Kyle Jones, Younglang Lee, , Daniella M. Schwartz
The paper identifies common hypomorphic TNFAIP3 variants associated with immune dysregulation and underdiagnosed haploinsufficiency diseases, suggesting widespread underrecognition of these conditions.
medRxiv · Apr 29, 2026 · PreprintGenetic & Genomic Medicine