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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| Auteurs principaux: | , , , , , , , , , , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/b30a66e1862844a7af675f1dc0ce0298 |
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