Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

Abstract CARMIL2 is required for CD28-mediated co-stimulation of NF-κB signaling in T cells and its deficiency has been associated with primary immunodeficiency and, recently, very early onset inflammatory bowel disease (IBD). Here we describe the identification of novel biallelic CARMIL2 variants i...

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Main Authors: Luca Bosa, Vritika Batura, Davide Colavito, Karoline Fiedler, Paola Gaio, Conghui Guo, Qi Li, Antonio Marzollo, Claudia Mescoli, Ryusuke Nambu, Jie Pan, Giorgio Perilongo, Neil Warner, Shiqi Zhang, Daniel Kotlarz, Christoph Klein, Scott B. Snapper, Thomas D. Walters, Alberta Leon, Anne M. Griffiths, Mara Cananzi, Aleixo M. Muise
Format: article
Language:EN
Published: Nature Portfolio 2021
Subjects:
Medicine
R
Science
Q
Online Access:https://doaj.org/article/b30a66e1862844a7af675f1dc0ce0298
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https://doaj.org/article/b30a66e1862844a7af675f1dc0ce0298

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