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

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 in three p...

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Publicado no:Sci Rep
Main Authors: Bosa, Luca, Batura, Vritika, Colavito, Davide, Fiedler, Karoline, Gaio, Paola, Guo, Conghui, Li, Qi, Marzollo, Antonio, Mescoli, Claudia, Nambu, Ryusuke, Pan, Jie, Perilongo, Giorgio, Warner, Neil, Zhang, Shiqi, Kotlarz, Daniel, Klein, Christoph, Snapper, Scott B., Walters, Thomas D., Leon, Alberta, Griffiths, Anne M., Cananzi, Mara, Muise, Aleixo M.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7960730/
https://ncbi.nlm.nih.gov/pubmed/33723309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-85399-9
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