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. 2020 May 29;15:131. doi: 10.1186/s13023-020-01411-x

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© The Author(s) 2020

Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 2 — Clinical data of patients with LIG4 syndrome. a: Facial features of P7. b: The axial (1) and coronal (2) CT scan of the chest (P1) showed bilateral lung diffuse lesions with opacification. c: Gastroenterological endoscope examination of P2 demonstrated multiple ulcers of the oropharynx (1), small intestine (2), colon (3) and rectum (4). d: Morphological examination of bone marrow (P6) revealed abnormal hematopoiesis in granulocyte and erythroid series to different extents. Vacuolar degeneration (1), binucleated (2) or giant (3) granulocytes were observed in granulocyte series. Erythroid series were active proliferation, megaloblastic change and occasionally positive PAS staining (4)