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. 2018 Nov 13;8:16719. doi: 10.1038/s41598-018-34953-z

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Analysis of somatic alterations in DOCK8. (a) Gating strategy to sort lymphocyte subsets according to their DOCK8 expression. PBMCs of patient II.2 were gated for lymphocytes and then DOCK8-negative cells into B cells (DOCK8⁻CD19⁺) and non-B cells (DOCK8⁻CD19⁻), and DOCK8-positive cells into T cells (DOCK8⁺CD19⁻CD3⁺) and NK cells (DOCK8⁺CD19⁻CD56⁺). (b) gDNA sequence of sorted cells of patient II.2 had a homozygous peak for the c.4626 + 76 A > G alteration (red letter) in T and B cells and a double peak with altered (red letter) and wildtype (black letter) sequence in NK cells. (c) gDNA sequence of unfixed and unpermeabilized PBMCs of patient II.2 sorted according to the lymphocyte subsets CD4⁺ and CD8⁺ T cells showing double peaks with altered (red letter) and wildtype (black letter) sequence in CD4⁺ T cells at positions c.4626 + 76 and c.4626 + 77 and at position c.4626 + 80 in CD8⁺ T cells.