RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant

Emma Westermann-Clark, Alice Grossi, Francesca Fioredda, Stefano Giardino, Enrico Cappelli, Paola Terranova, Elena Palmisani, Jocelyn R. Farmer, Zsofia Foldvari, Yasuhiro Yamazaki, Maura Faraci, Edoardo Lanino (+5 others)
<span title="">2018</span> <i title="Elsevier BV"> <a target="_blank" rel="noopener" href="https://fatcat.wiki/container/zgmk5wfinva3pnhwmh2p3xgzoq" style="color: black;">Clinical Immunology</a> </i> &nbsp;
Recombination activating genes 1 and 2 (RAG) proteins are involved in generating diversity of T-and B-cell receptors via recombination of variable, diversity, and joining (VDJ) gene segments. RAG mutations can manifest with a variety of clinical presentations. Some patients with near complete RAG deficiency, often due to bi-allelic nonsense or frameshift mutations, develop severe infections within the first year of life and are diagnosed with
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