Journal article
Excessive deubiquitination of NLRP3-R779C variant contributes to very-early-onset inflammatory bowel disease development
L Zhou, T Liu, B Huang, M Luo, Z Chen, Z Zhao, J Wang, D Leung, X Yang, KW Chan, Y Liu, L Xiong, P Chen, H Wang, L Ye, H Liang, SL Masters, AM Lew, S Gong, F Bai Show all
Journal of Allergy and Clinical Immunology | MOSBY-ELSEVIER | Published : 2021
Abstract
Background: Very-early-onset inflammatory bowel disease (VEOIBD) is a chronic inflammatory disease of the gastrointestinal tract occurring during infancy or early childhood. NOD-like receptor family, pyrin domain containing 3 (NLRP3) inflammasome has emerged as a crucial regulator of intestinal homeostasis; however, whether NLRP3 variants may modify VEOIBD risk is unknown. Objective: We sought to investigate whether and how a rare NLRP3 variant, found in 3 patients with gastrointestinal symptoms, contributes to VEOIBD development. Methods: Whole-exome sequencing and bioinformatic analysis were performed to screen disease-associated NLRP3 variants from a cohort of children with VEOIBD. Inflam..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by the National Natural Science Foundation of China (grant nos. 31870862, 31770978, 91742109, and 81873869), The Society for the Relief of Disabled Children, Innovation and Technology Fund, Innovation and TechnologyCommission, the Government of the Hong Kong Special Administrative Region (ITS/417/18), the Fundamental Research Funds for the Central Universities (19lgpy198), and the National Health andMedical Research Council ofAustralia (grant nos. 1143976, 1150425, and 1080321). S.L.M. acknowledges funding from The Sylvia and Charles Viertel Foundation and HHMI-Wellcome International Research Scholarship.