Science Immunology

Supplementary Materials

The PDF file includes:

  • Case reports
  • Fig. S1. Identification of a private MAPK8 variant in the patients.
  • Fig. S2. Impaired IL-17A/F signaling in the patients’ fibroblasts.
  • Fig. S3. Normal B cell differentiation in the patients.
  • Fig. S4. Impaired TGF-β signaling in the patients’ fibroblasts.
  • Table S1. Immunological parameters of P1, P2, and P3.
  • Table S2. Careful WES analysis of rare (MAF < 1%) nonsynonymous coding variants in the known CMC-, EDS-, LDS-, and MS-causing genes.
  • Table S3. Heterozygous nonsynonymous variants common to P1, P2, and P3.
  • Table S4. Clinical presentations of disorders caused by mutations in JNK1-dependent TGF-β target genes or in genes encoding the corresponding receptors.
  • Table S5. Primers used for Sanger sequencing, reverse transcription PCR, and exon trapping.
  • References (94, 95)

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Other Supplementary Material for this manuscript includes the following:

  • Table S6. Raw data file (Excel spreadsheet).

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