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. 2024 Sep 18;15:1438383. doi: 10.3389/fimmu.2024.1438383

Figure 2.

Figure 2

Clinical findings in a patient with TP63 variant and T cell lymphopenia. (A) Right foot with widely spaced toes, polysyndactyly and severe skin erosion at the heel at 1 week of age (B) left foot with skin erosions at the heel at 1 week of age. (C) Severe skin erosions on scalp at 4 months of age (D) skin erosions on the right cheek at 4 months of age. (E) Right foot with improved skin erosions at 1 month of age (F) left foot with widely spaced toes, polysyndactyly and improved skin erosions at 1 month of age. (G) Scalp with improved skin erosions at 13 months of age (H) Left eye with central thinning at 13 months of age. (I, J) T cell differentiation induced by artificial thymic organoids culturing CD34+ cells from individual with TP63 pathogenic variant (case) and unaffected age-matched control in the Artificial Thymic Organoid (ATO) system. Representative analysis of T cell differentiation in case and control at 4 months of age (I) and 26 months of age (J) after 6 weeks in culture in the ATO system. Cells were gated on LIVE/DEAD–CD45+CD14–CD56– cells and the expression of early and late T cell commitment markers (CD5, CD7, CD1α, CD4, CD8β, CD3, TCRαβ. Absolute cell counts per artificial thymic organoid and indicated early and late T cell commitment markers in TP63 variant (purple) and control (green) at 4 months (I) and 26 months of age (J).