Early Onset Granulomatous Colitis Associated with a Mutation in NCF4 Resolved with Hematopoietic Stem Cell Transplantation

J Pediatr. 2019 Jul:210:220-225. doi: 10.1016/j.jpeds.2019.03.042. Epub 2019 Apr 23.

Abstract

A 4-year-old boy presented with perianal abscess and granulomatous colitis, which led the diagnosis of Crohn's disease. He became refractory to all available therapies and required colectomy. Targeted sequencing revealed a deleterious variant in NCF4, causing severe neutrophil dysfunction. He underwent hematopoietic stem cell transplantation (HSCT) with an excellent outcome.

Keywords: Crohn's disease; IBD; NCF4; children; chronic granulomatosis disease.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Child, Preschool
  • Crohn Disease / diagnosis
  • Crohn Disease / genetics*
  • Crohn Disease / therapy*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Male
  • Mutation*
  • NADPH Oxidases / genetics*

Substances

  • NADPH Oxidases
  • NCF4 protein, human