Panel A: A genealogical tree diagram showing the family members of the index case with severe neonatal lymphopenia. The index case is represented by a black box, while the unaffected family members are represented by light boxes and circles. Panel B: Flow cytometric dot plots showing the percentages of C D 4 and C D 8 T cells in total lymphocytes for a control and the index patient. Histogram plots display C F S E dilution in unstimulated and P H A-stimulated C D 4 and C D 8 T cells for both the control and the index patient. Panel C: Vertical bar graphs illustrating the relative abundance of C D 4 and C D 8 T cell antigen receptor V beta clonotypes for a control and the index patient.
TREC newborn screening identifies a case of severe neonatal polyclonal T lymphopenia. (A) Genealogical tree of the index case (black box) with severe neonatal lymphopenia and his immunologically unaffected parents and siblings (light boxes and circles). (B) Flow cytometric dot plots (upper lane) of CD4 and CD8 T cells including their respective percentages of total lymphocytes and histogram plots (middle and lower lanes) of CFSE dilution in unstimulated (gray histogram) and PHA-stimulated (black histogram) CD4 and CD8 T cells of a control (left column) and the index patient (right column); n = 1. (C) Flow cytometry–based bar graphs of CD4 and CD8 TCR Vβ clonotypes (x axis) and their relative abundance (y axis) of a control (blue boxes) and the index patient (red boxes); n = 1 (15).