A. C. G. de Oteyza

Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.

Smita Y. Patel, F. Dhalla, Smita Y Patel, 2021, Clinical immunology.

Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI

E. Ballestar, R. Geiger, H. Eibel, 2022, Frontiers in Immunology.

Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing

L. Moradi, B. Grimbacher, S. Bahram, 2023, Genes & Immunity.