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

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

Author information

1
Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA.
2
Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA; Pediatric Institute, Children's Healthcare of Atlanta, Atlanta, GA.
3
Pediatric Institute, Children's Healthcare of Atlanta, Atlanta, GA; Department of pathology, Emory University School of Medicine, Atlanta, GA.
4
Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
5
Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA; Pediatric Institute, Children's Healthcare of Atlanta, Atlanta, GA. Electronic address: skugath@emory.edu.

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

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