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

Kosuke Taniguchi; Mikihiro Inoue; Katsuhiro Arai; Keiichi Uchida; Osuke Migita; Yui Akemoto; Junya Hirayama; Ichiro Takeuchi; Hirotaka Shimizu; Kenichiro Hata

doi:10.1038/s41439-020-00128-4

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

Kosuke Taniguchi, Mikihiro Inoue, Katsuhiro Arai, Keiichi Uchida, Osuke Migita, Yui Akemoto, Junya Hirayama, Ichiro Takeuchi, Hirotaka Shimizu, Kenichiro Hata

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Abstract

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).

Original language	English
Article number	1
Journal	Human Genome Variation
Volume	8
Issue number	1
DOIs	https://doi.org/10.1038/s41439-020-00128-4
Publication status	Published - 12-2021
Externally published	Yes

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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

abstract = "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).",

author = "Kosuke Taniguchi and Mikihiro Inoue and Katsuhiro Arai and Keiichi Uchida and Osuke Migita and Yui Akemoto and Junya Hirayama and Ichiro Takeuchi and Hirotaka Shimizu and Kenichiro Hata",

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doi = "10.1038/s41439-020-00128-4",

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T1 - Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion

AU - Taniguchi, Kosuke

AU - Inoue, Mikihiro

AU - Arai, Katsuhiro

AU - Uchida, Keiichi

AU - Migita, Osuke

AU - Akemoto, Yui

AU - Hirayama, Junya

AU - Takeuchi, Ichiro

AU - Shimizu, Hirotaka

AU - Hata, Kenichiro

PY - 2021/12

Y1 - 2021/12

N2 - 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).

AB - 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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SN - 2054-345X

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

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