Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onse...
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis
About this item
Full title
Author / Creator
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 and Samsom, Janneke N.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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. Strikingly, after colectomy while the patient...
Alternative Titles
Full title
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8379074
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8379074
Other Identifiers
ISSN
1933-0219
E-ISSN
1935-3456
DOI
10.1038/s41385-021-00423-5
