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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960730/
https://www.ncbi.nlm.nih.gov/pubmed/33723309
http://dx.doi.org/10.1038/s41598-021-85399-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7960730/
https://www.ncbi.nlm.nih.gov/pubmed/33723309
http://dx.doi.org/10.1038/s41598-021-85399-9

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