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

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.

Source: The Journal of Pediatrics - April 22, 2019 Category: Pediatrics Authors: Mathew Wright, Shanmuganathan Chandrakasan, David T. Okou, Hong Yin, Ingrid Jurickova, Lee A. Denson, Subra Kugathasan Tags: Clinical and Laboratory Observations Source Type: research