Science Immunology

Supplementary Materials

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  • Fig. S1. Medical images of MR1R9H/R9H patient skin lesions involving limbs and neck.
  • Fig. S2. IFIH1 transcript, splice variant confirmation, and the patient’s antiviral response.
  • Fig. S3. MR1R9H amino acid position, conservation of R9 across species, and Sanger sequencing confirmation of mutation.
  • Fig. S4. PBMC gating strategy for flow cytometry.
  • Fig. S5. MR1R9H/R9H patient’s Vα7.2+ CD161 T cells are not reactive to bacterial stimulation.
  • Fig. S6. MR1R9H/R9H patient has reduced frequency of T cells, with the majority having a memory phenotype.
  • Fig. S7. MR1R9H can be refolded and purified without addition of exogenous ligand.
  • Fig. S8. Crystal structures of A′-pocket of WT MR1 and MR1R9H.
  • Fig. S9. MR1R9H-empty tetramer does not distinguish a distinct population of cells in MR1R9H/R9H patient’s PBMCs.
  • Fig. S10. SPR for MR1R9H.
  • Fig. S11. MR1R9H/R9H patient NK cells and monocytes have the typical subsets.
  • Fig. S12. MR1R9H/R9H patient has reduced memory B cells.
  • Fig. S13. MR1R9H/R9H patient has robust production of cytokines and cytotoxic granules in response to bacterial challenge.
  • Table S1. List of novel SNVs identified in the patient by whole-exome sequencing.
  • Table S2. List of rare SNVs identified in the patient by whole-exome sequencing.
  • Table S3. Total cell counts for T cell populations.
  • Table S4. Data collection and refinement statistics for crystal structures.
  • Table S5. MR1R9H/R9H patient immunoglobulin testing.
  • References (4953)

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Other Supplementary Material for this manuscript includes the following:

  • Table S6. Raw data in Excel spreadsheet.

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