Science Immunology

Supplementary Materials

The PDF file includes:

  • Materials and Methods
  • Fig. S1. Somatic and skeletal anomalies of P1 and P3.
  • Fig. S2. Immunological phenotype of P1.
  • Fig. S3. Lymph node pathology in P2.
  • Fig. S4. Scheme of filtering used for analysis of WES data in patients P1, P2, and P4.
  • Fig. S5. Evolutionary conservation of PAX1 Val147, Asn155, Gly166, and Cys368 amino acid residues.
  • Fig. S6. Protein stability of mouse PAX1 mutants corresponding to human PAX1 variants.
  • Fig. S7. Ramachandran plot of PAX1 structural modeling.
  • Fig. S8. MD simulation of PAX1 conformations.
  • Fig. S9. DNA-PAX1 paired box domain variant complexes after MD simulations.
  • Fig. S10. Stemness profile of iPSCs.
  • Fig. S11. Differentiation of iPSCs into TEP cells in control donor.
  • Fig. S12. Immunofluorescence analysis of KRT8 protein expression of control (C) and patient (P1) TEP cells.
  • Fig. S13. Differentially expressed genes between control and patient cells at TEP stage of differentiation.
  • Table S1. List of candidate genes after filtering WES data.
  • Table S2. Other genes involved in thymic development, with concordant differential expression in P1 and P4 versus control TEP cells.

Download PDF

Other Supplementary Material for this manuscript includes the following:

Files in this Data Supplement: