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. 2022 Mar 10;12:3906. doi: 10.1038/s41598-022-07804-1

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© The Author(s) 2022

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 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/.

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Defective NOD2-mediated signaling in patient primary cells. (A) Schematic illustration of NOD2 protein domains. The mutation identified in patient is depicted by an asterisk. (B) Representative FACS analysis of TNF staining (n = 3) on PBMC-derived monocytes (CD14⁺) isolated from patient (Pat), mother and a healthy donor (HD) and stimulated with L18-MDP or LPS. (C) Representative FACS analysis of CD62L expression (n = 3) on neutrophils isolated from patient (Pat) and two healthy donors (HD) upon L18-MDP stimulation. (D) Representative immunoblotting of serum-starved PBMCs from patient (Pat) and two healthy donors (HD) stimulated with L18-MDP or LPS.