A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation
Other literature type, Article
- Publisher: American Society for Clinical Investigation
Natural/*immunology | Reference Values | Research Article | Research Support | T-Lymphocytes/*immunology | DNA Ligases/*genetics | Mice | Non-U.S. Gov't | Mutation | Severe Combined Immunodeficiency/*genetics/*immunology | Animals | B-Lymphocytes/*immunology | Humans | Killer Cells | SCID
textabstractV(D)J recombination of Ig and TCR loci is a stepwise process during which site-specific DNA double-strand breaks (DSBs) are made by RAG1/RAG2, followed by DSB repair by nonhomologous end joining. Defects in V(D)J recombination result in SCID characterized by...