Science Immunology

Supplementary Materials

The PDF file includes:

  • Materials and Methods
  • Supplementary case summary
  • Fig. S1. Ingenuity pathway analysis of whole blood RNA-seq data.
  • Fig. S2. Longitudinal series of laboratory parameters.
  • Fig. S3. Multiple sequence alignment of STAT2.
  • Fig. S4. Factor H genotyping and mutant factor H purification strategy.
  • Fig. S5. Functional analysis of factor H Tyr779Cys variant.
  • Fig. S6. Immunoblot analysis of MX1 expression in PBMCs.
  • Fig. S7. Transduction of STAT2-deficient primary fibroblasts.
  • Fig. S8. Prolonged STAT2 phosphorylation in PBMCs.
  • Fig. S9. STAT2 immunofluorescence image analysis.
  • Fig. S10. STAT phosphorylation is not prolonged in patient cells in response to IFNγ or IL-6.
  • Fig. S11. RT-PCR analysis of gene expression in whole blood.
  • Fig. S12. STAT2R148W does not impair regulation of STAT1 signaling.
  • Fig. S13. Phosflow gating strategy.
  • Table S1. Laboratory parameters, patients II:3 and II:4.
  • Table S2. Rare variants segregating with disease.
  • Table S3. Digital ELISA detection of IFNα protein concentration.
  • Table S4. Phenotypes of monogenic defects of USP18 expression and/or function.
  • Table S5. RT-PCR primers and probes.
  • Table S6. Antibodies.
  • References (5159)

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