Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a...

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Autores principales: Taniguchi, Kosuke, Inoue, Mikihiro, Arai, Katsuhiro, Uchida, Keiichi, Migita, Osuke, Akemoto, Yui, Hirayama, Junya, Takeuchi, Ichiro, Shimizu, Hirotaka, Hata, Kenichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809258/
https://www.ncbi.nlm.nih.gov/pubmed/33446651
http://dx.doi.org/10.1038/s41439-020-00128-4
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author Taniguchi, Kosuke
Inoue, Mikihiro
Arai, Katsuhiro
Uchida, Keiichi
Migita, Osuke
Akemoto, Yui
Hirayama, Junya
Takeuchi, Ichiro
Shimizu, Hirotaka
Hata, Kenichiro
author_facet Taniguchi, Kosuke
Inoue, Mikihiro
Arai, Katsuhiro
Uchida, Keiichi
Migita, Osuke
Akemoto, Yui
Hirayama, Junya
Takeuchi, Ichiro
Shimizu, Hirotaka
Hata, Kenichiro
author_sort Taniguchi, Kosuke
collection PubMed
description A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion and detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829_138244816) × 1).
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spelling pubmed-78092582021-01-21 Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion Taniguchi, Kosuke Inoue, Mikihiro Arai, Katsuhiro Uchida, Keiichi Migita, Osuke Akemoto, Yui Hirayama, Junya Takeuchi, Ichiro Shimizu, Hirotaka Hata, Kenichiro Hum Genome Var Data Report A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing (WES) for a Japanese girl with infantile-onset IBD and a severe perianal lesion and detected a novel de novo 119 kb microdeletion containing only TNFAIP3 (arr[GRCh37] 6q23.3(138125829_138244816) × 1). Nature Publishing Group UK 2021-01-14 /pmc/articles/PMC7809258/ /pubmed/33446651 http://dx.doi.org/10.1038/s41439-020-00128-4 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Taniguchi, Kosuke
Inoue, Mikihiro
Arai, Katsuhiro
Uchida, Keiichi
Migita, Osuke
Akemoto, Yui
Hirayama, Junya
Takeuchi, Ichiro
Shimizu, Hirotaka
Hata, Kenichiro
Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_full Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_fullStr Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_full_unstemmed Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_short Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
title_sort novel tnfaip3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809258/
https://www.ncbi.nlm.nih.gov/pubmed/33446651
http://dx.doi.org/10.1038/s41439-020-00128-4
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