High-throughput TCR sequencing of rare immune disorders has demonstrated that quantitative TCR diversity can appear normal despite qualitative changes in repertoire and strongly suggests that in human subjects RAG enzymatic function might be necessary for normal CDR3 junctional diversity.
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- Xiaomin Yu, PhD
, - Jorge Almeida, PhD
, - Sam Darko, PhD
, - Mirjam van der Burg, PhD
, - Suk See DeRavin, MD, PhD
, - Harry Malech, MD
,- Andrew Gennery, MD
, - Ivan Chinn, MD
, - Mary Louise Markert, MD, PhD
, - Daniel C. Douek, MD, PhD
, - Joshua D. Milner, MD
ConclusionsHigh-throughput TCR sequencing of rare immune disorders has demonstrated that quantitative TCR diversity can appear normal despite qualitative changes in repertoire and strongly suggests that in human subjects RAG enzymatic function might be necessary for normal CDR3 junctional diversity.