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Higher Prevalence of Monogenic Cause Among Very Early Onset Inflammatory Bowel Disease in Children: Experience From a Tertiary Care Center From Northern India.

Ujjal PoddarAggarwal AmitaKrishnegowda JayalakshmiMoinak Sen SarmaAnshu SrivastavaDeepti SuriSurender Kumar Yachha
Published in: Inflammatory bowel diseases (2023)
One-third of participants were monogenic among Indian children with VEO-IBD, the highest proportion reported to date in the world. Next-generation (either exome or whole genome) sequencing should be recommended in a subset of VEO-IBD with neonatal onset, perianal disease, history of consanguinity and siblings' death, wasting, stunting, and IBD unclassified phenotype for an early diagnosis and referral to an appropriate center for hematopoietic stem cell transplantation for a better outcome.
Keyphrases
  • early onset
  • tertiary care
  • young adults
  • late onset
  • ulcerative colitis
  • primary care
  • risk factors
  • acute myeloid leukemia
  • intellectual disability
  • copy number
  • dna methylation