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

Kosuke TaniguchiMikihiro InoueKatsuhiro AraiKeiichi UchidaOsuke MigitaYui AkemotoJunya HirayamaIchiro TakeuchiHirotaka ShimizuKenichiro Hata
Published in: Human genome variation (2021)
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).
Keyphrases
  • early onset
  • late onset
  • ulcerative colitis
  • hidradenitis suppurativa
  • multiple sclerosis
  • depressive symptoms
  • sleep quality