WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease

J Pediatr Gastroenterol Nutr. 2020 Oct;71(4):e113-e117. doi: 10.1097/MPG.0000000000002826.

Abstract

Infantile and very early onset inflammatory bowel disease (VEOIBD) are a rare phenomenon wherein patients develop intestinal inflammation with typical IBD symptoms before ages 2 and 6, respectively. In recent years, there has been an increasing number of monogenetic immunological disorders identified that lead a child to develop VEOIBD. We present a case of an infant boy who presented with hematochezia and thrombocytopenia in the first week of life and developed IBD by the age of 1 month. Additional clues to his diagnosis included lymphopenia and nuclear herniation observed in his neutrophils. Compound heterozygous damaging variants were identified in WD Repeat Domain 1 (WDR1) by whole-exome sequencing (WES) and represents a novel cause of VEOIBD. Our patient's IBD and immunologic phenotype was successfully treated by hematopoietic stem cell transplant (HSCT).

Publication types

  • Case Reports

MeSH terms

  • Colitis*
  • Exome Sequencing
  • Humans
  • Infant
  • Inflammatory Bowel Diseases* / complications
  • Inflammatory Bowel Diseases* / diagnosis
  • Inflammatory Bowel Diseases* / genetics
  • Male
  • Microfilament Proteins / deficiency*
  • Phenotype
  • WD40 Repeats

Substances

  • Microfilament Proteins
  • WDR1 protein, human