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Supplementary Material for:

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Vivien Béziat*, Juan Li, Jian-Xin Lin, Cindy S. Ma, Peng Li, Aziz Bousfiha, Isabelle Pellier, Samaneh Zoghi, Safa Baris, Sevgi Keles, Paul Gray, Ning Du, Yi Wang, Yoann Zerbib, Romain Lévy, Thibaut Leclercq, Frédégonde About, Ai Ing Lim, Geetha Rao, Kathryn Payne, Simon J. Pelham, Danielle T. Avery, Elissa K. Deenick, Bethany Pillay, Janet Chou, Romain Guery, Aziz Belkadi, Antoine Guérin, Mélanie Migaud, Vimel Rattina, Fatima Ailal, Ibtihal Benhsaien, Matthieu Bouaziz, Tanwir Habib, Damien Chaussabel, Nico Marr, Jamel El-Benna, Bodo Grimbacher, Orli Wargon, Jacinta Bustamante, Bertrand Boisson, Ingrid Müller-Fleckenstein, Bernhard Fleckenstein, Marie-Olivia Chandesris, Matthias Titeux, Sylvie Fraitag, Marie-Alexandra Alyanakian, Marianne Leruez-Ville, Capucine Picard, Isabelle Meyts, James P. Di Santo, Alain Hovnanian, Ayper Somer, Ahmet Ozen, Nima Rezaei, Talal A. Chatila, Laurent Abel, Warren J. Leonard, Stuart G. Tangye, Anne Puel*, Jean-Laurent Casanova*

*Corresponding authors. Email: anne.puel{at} (A.P.); jean-laurent.casanova{at} (J.-L.C.); vivien.beziat{at} (V.B.)

Published 15 June 2018, Sci. Immunol. 3, eaat4956 (2018)
DOI: 10.1126/sciimmunol.aat4956

This PDF file includes:

  • Materials and Methods
  • Fig. S1. Clinical features, histology, and genetics.
  • Fig. S2. Molecular characterization of ZNF341 mutations and endogenous expression.
  • Fig. S3. Myeloid immunophenotyping.
  • Fig. S4. ChIP-seq analysis, DNA binding site mutagenesis, luciferase assays, and STAT1 and STAT3 production and function in cell lines derived from the patients? cells.
  • Fig. S5. STAT3 levels in primary fibroblasts, NK cells, and B cells.
  • Fig. S6. STAT3 mRNA induction in naïve CD4+ T cells.
  • Fig. S7. Patients? T cell function evaluation and SV40 fibroblast and keratinocyte responses to IL-17 cytokines.
  • Table S1. Clinical summary of ZNF341-deficient patients.
  • Table S2. Biological parameters of ZNF341-deficient patients.
  • Table S3. Rare coding variants of P2/P3 (top) and P4 (bottom) within the linkage regions of kindreds A and B.
  • Table S4. RNA-seq data obtained from P4 EBV-B cells transduced with ZNF341 WT isoform 1 or an empty vector.
  • Table S5. RNA-seq data obtained from P4 EBV-B cells transduced with ZNF341 WT isoform 2 or an empty vector.
  • Table S6. Microarray data obtained from sorted naïve CD4+ T cells.
  • Table S7. RNA-seq data obtained from freshly isolated CD3+ T cells.
  • Table S8. DNA sequences used for luciferase reporter plasmids and as fluorescent probes and biotinylated probes.
  • Table S9. ChIP-seq and RNA-seq quality control information.
  • References (72–84)

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