Abbreviations
- BTK:
-
Bruton’s tyrosine kinase
- FACS:
-
Fluorescence activated cell sorting
- NGS:
-
Next generation sequencing
- VUS:
-
Variant of uncertain significance
- XLA:
-
X-linked agammaglobulinemia
References
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Acknowledgements
We thank Emma Cook for her editorial expertise and Erin Hammelev for IRB assistance.
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Dr. Routes reports a grant and independent contractor from CSL Behring, a grant from Baxalta, grant from Bio Products Laboratory Limited, outside the submitted work. All other authors declare that they have no conflict of interest.
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Supplementary Figure 1
A. Position of the variant in BTK (c. 1004T>A) (top) and with p.V335D mutation in the protein (bottom). Primers for RT-PCR cDNA amplification are highlighted in yellow, with the nucleotide substitution indicated in red. PH, pleckstrin homology; TH, TEC homology domain; SH, src homology. B. Outline of the FACS and RNA sequencing of B cells and monocytes in carrier. (PDF 96 kb)
Supplementary Figure 2
Flow cytometry histograms measuring BTK expression in the proband and the sister. Expression was measured in CD14+ monocytes and CD19+ B cells. The isotype controls for each subject sample is presented across the top row, whereas the subject results are shown across the bottom row. Quantification of the expression is included in Table 1. (PDF 54 kb)
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Bausch-Jurken, M.T., Hintermeyer, M., Woodliff, J. et al. Damaging BTK Variant Demonstrated by Carrier, Allele-Specific BTK Expression in B Cells and Monocytes. J Clin Immunol 39, 23–25 (2019). https://doi.org/10.1007/s10875-019-0591-6
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DOI: https://doi.org/10.1007/s10875-019-0591-6