Ontology highlight
ABSTRACT:
SUBMITTER: Joosse ME
PROVIDER: S-EPMC8379074 | biostudies-literature | 2021 Sep
REPOSITORIES: biostudies-literature
Joosse Maria E ME Charbit-Henrion Fabienne F Boisgard Remy R Raatgeep Rolien H C RHC Lindenbergh-Kortleve Dicky J DJ Costes Léa M M LMM Nugteren Sandrine S Guegan Nicolas N Parlato Marianna M Veenbergen Sharon S Malan Valérie V Nowak Jan K JK Hollink Iris H I M IHIM Mearin M Luisa ML Escher Johanna C JC Cerf-Bensussan Nadine N Samsom Janneke N JN
Mucosal immunology 20210705 5
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 was in clinical remission and without medication, the peripheral blood CD4:CD8 ratio was constitutively high and CD25 expression was increased on circulati ...[more]