Early Onset Granulomatous Colitis Associated with a Mutation in NCF4 Resolved with Hematopoietic Stem Cell Transplantation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31027832.
- Also identified by DOI 10.1016/j.jpeds.2019.03.042 and PMC identifier 8415091.
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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.
Medical subject headings
- Crohn Disease
- Hematopoietic Stem Cell Transplantation
- Mutation
- NADPH Oxidases