Article
Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development.
Blood - 19 Jul 2018
Ott de Bruin L M, Bosticardo M, Barbieri A, Lin S G, Rowe J H, Poliani P L, Ching K, Eriksson D, Landegren N, Kämpe O, Manis J P, Notarangelo L D
Abstract excerpt
Hypomorphic RAG1 mutations allowing residual T- and B-cell development have been found in patients presenting with delayed-onset combined immune deficiency with granulomas and/or autoimmunity (CID-G/AI) and abnormalities of the peripheral T- and B-cell repertoire. To examine how hypomorphic Rag1 mutations affect the earliest stages of lymphocyte development, we used CRISPR/Cas9 to generate mouse models with...
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