Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
Mutations in interleukin-10 receptor (IL-10R) genes are one cause of very early-onset inflammatory bowel disease with perianal lesions, which can be cured by hematopoietic stem cell transplantation. Using a functional test, which assesses responsiveness of peripheral monocytes to IL-10, we identifie...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2018-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC6203366?pdf=render |