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RAG2 serious mixed immune deficiency (RAG2-SCID) is actually a lethal dysfunction due to the absence of useful T and B cells resulting from a differentiation block. In this article, we produced induced pluripotent stem cells (iPSCs) from a RAG2-SCID affected person to study the nature from the T cell developmental blockade. We observed a strongly lowered capacity to differentiate at every investigated stage of T cell advancement, from early CD7-CD5- to CD4+CD8+. The impaired differentiation was accompanied by an increase in CD7-CD56+CD33+ organic killer (NK) cell-like cells. T cell receptor D rearrangements were completely absent in RAG2SCID cells, While the unusual T cell receptor B rearrangements were likely the results of illegitimate rearrangements.
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