Modelling human RAG2-SCID using iPSC

Harald Mikkers and colleagues published in this week’s edition of Stem Cell Reports that the defect in T cell development in patients suffering from severe combined immunodeficiency due to mutations in the RAG2 gene is different from the defect observed in RAG2 mutant mice.

They used patient-derived induced pluripotent stem cells (iPSC) to demonstrate that the development of T lymphocytes is compromised during several early stages of T cell differentiation. As a consequence these SCID cells develop into natural killer (NK) cells. The authors believe that their system can aid in the categorization of different SCID mutations.

 

https://doi.org/10.1016/j.stemcr.2019.12.010

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