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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Sci Rep
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2021
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky