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. 2017 Dec 19;8:2176. doi: 10.1038/s41467-017-01932-3

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© The Author(s) 2017

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 Commonslicense, unless indicated otherwise in a credit line to the material. If material is not included in the article’sCreative 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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Fig. 6 — Effects of DNASE2 mutations on red blood cell homeostasis. Heat map of genes derived by statistical analysis of RNA-Seq data selected according to the following criteria: Control vs. DNase II fold change >2 or <−2 (Adj p < 0.05) and STING vs. Controls (Adj p > 0.05) and DNase II vs. STING; (Adj p < 0.05). b Histogram of the 10 hematological functions identified as the most significantly enriched by Ingenuity Pathway Analysis (IPA) of the genes derived in a. Genes included in these networks are annotated in c with known interactions symbolized by the dotted lines. d Representative dot plot of a CD71 GPA staining of blood from F1:V-3 vs. a healthy control (HC). Patients (n = 2) demonstrated an increased proportion of circulating CD71⁺, GPA⁺ erythroblasts compare to HC (n = 5). e Representative dot plot of a reticulocyte staining of blood from F1:V-3 vs. a healthy control. Reticulocyte percentage is comparable between patients (n = 2) and controls (n = 5). f Liver biopsy (x40) taken from F1:V-3 at age 8 years demonstrating increased numbers of enlarged Kupffer cells containing hemosiderin (identified by Perls’ stain). Quantification of the number of such cells per field in F1:V-3 (n = 20) compared to 2 age-matched non-inflammatory controls (HC) (n = 41) is given on the right (Mann–Whitney test, *p < 0.05; ***p < 0.001)