The next speaker is Karin Pike-Overzet from #LUMC who will be talking about a clinical trial for RAG1-SCID patients using hematopoietic stem-cell therapy combined with lentiviral therapy. #SCID #NVGCT2025 #clinicaltrial #RAG1

NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome Developing T and B cells show a conserved requirement for NUDCD3 to support recombinase-mediated shuffling of antigen receptor genes.

In May 2024, Sophie Hambleton & colleagues reported the existence of 11 patients with #SCID or #OS who had a single homozygous deleterious missense variant of gene NUDCD3. This work suggests NUDCD3 may be an important cochaperone in #RAG2 -mediated egress of #RAG1 from the nucleoli!