Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindr...
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds
About this item
Full title
Author / Creator
Charbit-Henrion, Fabienne , Bègue, Bernadette , Sierra, Anaïs , Hanein, Sylvain , Stolzenberg, Marie-Claude , Li, Zhi , Pellegrini, Sandra , Garcelon, Nicolas , Jeanpierre, Marc , Neven, Bénédicte , Loge, Isabelle , Picard, Capucine , Rosain, Jeremie , Bustamante, Jacinta , Le Lorc'H, Marc , Pigneur, Benedicte , Fernandes, Alicia , Rieux-Laucat, Frédéric , Amil Dias, Jorge , Ruemmele, Frank and Cerf-Bensussan, Nadine
Publisher
Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
Public Library of Science
Subjects
More information
Scope and Contents
Contents
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 identified three unrelated Portuguese patients carrying two...
Alternative Titles
Full title
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds
Authors, Artists and Contributors
Author / Creator
Bègue, Bernadette
Sierra, Anaïs
Hanein, Sylvain
Stolzenberg, Marie-Claude
Li, Zhi
Pellegrini, Sandra
Garcelon, Nicolas
Jeanpierre, Marc
Neven, Bénédicte
Loge, Isabelle
Picard, Capucine
Rosain, Jeremie
Bustamante, Jacinta
Le Lorc'H, Marc
Pigneur, Benedicte
Fernandes, Alicia
Rieux-Laucat, Frédéric
Amil Dias, Jorge
Ruemmele, Frank
Cerf-Bensussan, Nadine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_pasteur_02070998v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_pasteur_02070998v1
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0205826
