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 journalArticlepeer-review

1 Citation (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 languageEnglish
Article number1
JournalHuman Genome Variation
Volume8
Issue number1
DOIs
Publication statusPublished - 12-2021
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

Fingerprint

Dive into the research topics of 'Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion'. Together they form a unique fingerprint.

Cite this