Ontology highlight
ABSTRACT:
SUBMITTER: Ott de Bruin LM
PROVIDER: S-EPMC6053949 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Ott de Bruin L M LM Bosticardo M M Barbieri A A Lin S G SG Rowe J H JH Poliani P L PL Ching K K Eriksson D D Landegren N N Kämpe O O Manis J P JP Notarangelo L D LD
Blood 20180509 3
Hypomorphic <i>RAG1</i> 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 <i>Rag1</i> mutations affect the earliest stages of lymphocyte development, we used CRISPR/Cas9 to generate mouse models with mutations equivalent to those found in patients with CID-G/AI. Immunologica ...[more]