Genetic & Genomic MedicinemedRxivPreprint
How Rare is Rare? TNFAIP3 Variants and the High Collective Burden of Haploinsufficiency
Danica M. Lee, Urekha Karri, Charlotte Vera Cuff…·Daniella M. Schwartz
The paper identifies common hypomorphic TNFAIP3 variants associated with immune dysregulation and underdiagnosed haploinsufficiency diseases, suggesting widespread underrecognition of these conditions.
DOI 10.64898/2026.04.20.26350987