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...

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Bibliographic Details

Published in:	PLoS ONE
Main Authors:	Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2018-01-01
Online Access:	http://europepmc.org/articles/PMC6203366?pdf=render