Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis

Single genetic mutations predispose to very early onset inflammatory bowel disease (VEO-IBD). Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a 2-year-old girl with treatment-resistant pancolitis that was brought into remission by colectomy. S...

Descripción completa

Detalles Bibliográficos
Autores principales: Joosse, Maria E., Charbit-Henrion, Fabienne, Boisgard, Remy, Raatgeep, Rolien (H.) C., Lindenbergh-Kortleve, Dicky J., Costes, Léa M. M., Nugteren, Sandrine, Guegan, Nicolas, Parlato, Marianna, Veenbergen, Sharon, Malan, Valérie, Nowak, Jan K., Hollink, Iris H. I. M., Mearin, M. Luisa, Escher, Johanna C., Cerf-Bensussan, Nadine, Samsom, Janneke N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8379074/
https://www.ncbi.nlm.nih.gov/pubmed/34226674
http://dx.doi.org/10.1038/s41385-021-00423-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8379074/
https://www.ncbi.nlm.nih.gov/pubmed/34226674
http://dx.doi.org/10.1038/s41385-021-00423-5

Ejemplares similares