Science Immunology

Supplementary Materials

Supplementary Material for:

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

Yu Nee Lee, Francesco Frugoni, Kerry Dobbs, Irit Tirosh, Likun Du, Francesca A. Ververs, Heng Ru, Lisa Ott de Bruin, Mehdi Adeli, Jacob H. Bleesing, David Buchbinder, Manish J. Butte, Caterina Cancrini, Karin Chen, Sharon Choo, Reem A. Elfeky, Andrea Finocchi, Ramsay L. Fuleihan, Andrew R. Gennery, Dalia H. El-Ghoneimy, Lauren A. Henderson, Waleed Al-Herz, Elham Hossny, Robert P. Nelson, Sung-Yun Pai, Niraj C. Patel, Shereen M. Reda, Pere Soler-Palacin, Raz Somech, Paolo Palma, Hao Wu, Silvia Giliani, Jolan E. Walter, Luigi D. Notarangelo*

*Corresponding author. Email: luigi.notarangelo2{at}nih.gov

Published 16 December 2016, Sci. Immunol. 1, eaah6109 (2016)
DOI: 10.1126/sciimmunol.aah6109

This PDF file includes:

  • Fig. S1. Diversity indices of IGH and TRB repertoire.
  • Fig. S2. Differential usage of V, D, and J genes in the IGH and TRB repertoires of patients with RAG deficiency.
  • Fig. S3. Characteristics of the CDR3 region of IGH and TRB total sequences in peripheral blood lymphocytes.
  • Fig. S4. P and N nucleotide addition in the CDR3 of unique IGH and TRB sequences from controls and patients with RAG mutations and various clinical phenotypes.
  • Fig. S5. GI and frequency of sequences without P and N nucleotides in the TRB repertoire of patients with RAG deficiency and controls.
  • Fig. S6. Distribution of immunoglobulin heavy chain isotypes among total IGH sequences from controls and patients with RAG deficiency.
  • Fig. S7. Inference of antigen-mediated selection in combined and individual IgM, IgG, and IgE isotype transcripts from healthy controls and patients with RAG deficiency.
  • Table S1. Clinical and laboratory features of patients with RAG deficiency.
  • Table S2. Summary of RAG mutations, recombination activity, and results of IGH and TRB sequencing in healthy donors and patients with RAG deficiency.
  • References (4850)

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Other Supplementary Material for this manuscript includes the following:

  • Table S3 (Microsoft Excel format). Raw data for all the figures (named "data for Fig 1-6" and "data for Suppl Fig 2-6") and sequence of IGH and TRB transcripts from healthy controls and patients with RAG deficiency.

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