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. 2020 Jan 10;11:179. doi: 10.1038/s41467-019-13984-8

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© The Author(s) 2020

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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Fig. 1 — a Urticarial rash of the face of a 9-year-old girl and the leg of her 35-year-old mother. b Skin histopathology reveals dermal edema (H.E. yellow arrow) and perivascular infiltrates composed of macrophages (CD163) and few intravascular neutrophils (myeloperoxidase [MPO], yellow arrow). Original magnification ×400 (n = 2 technical replicates). c Family pedigree over four generations identifying affected (shaded black) and unaffected (unshaded) individuals. Exome sequenced individuals are underlined. Where conducted, the results of Sanger sequencing of p.W286R are shown to top left of each individual whereby “+” denotes heterozygote for variant and wild-type, and “−” denotes healthy reference. d Representative sequencing chromatogram of the heterozygous genotype in an affected individual (top) and chromatogram of healthy individual from the same region (bottom).