A minimal two-residue C-terminal truncation of AID in adult-onset hyper-IgM syndrome type 2 (HIGM2)
K. Green, A. B. Rovsing, E. Terczynska-Dyla, L. Jensen, K. Machalica, J. H. Wolff, L. Westerberg, C. S. Larsen, L. Lin, J. G. Mikkelsen, J. M. B. Jensen, S. E. Degn
This study identifies a two-residue C-terminal truncation variant in AID causing adult-onset HIGM2 and shows it disrupts CSR and SHM.
bioRxiv · Nov 2, 2026 · PreprintImmunology