Cure8 research brief
An ELANE mutation causing severe congenital neutropenia can present with neutropenic enterocolitis that mimics ulcerative colitis. Recognizing neutropenia and pursuing genetic testing can prevent misdiagnosis and change management.
Clinicians (gastroenterology, hematology, immunology), researchers in genetics/immunodeficiency, and patients with recurrent infections plus chronic neutropenia and GI inflammation.
The patient presented with abdominal pain, CT evidence of bowel wall thickening, and a colonic stricture leading to a laparoscopic right hemicolectomy. Initial pathology suggested ulcerative colitis, but ongoing severe neutropenia prompted whole-exome sequencing that found a likely pathogenic heterozygous ELANE variant, confirming SCN.
Retrospective review favored NE secondary to chronic neutropenia rather than primary inflammatory bowel disease. This report expands the recognized ways congenital neutropenia can present, including in adults with predominant gastrointestinal symptoms.
It underscores the value of checking persistent neutrophil counts and considering genetic testing when infections and neutropenia co-occur with GI inflammation.
Single case report based on the article abstract; not a study of treatment or outcomes. The diagnosis rested on whole-exome sequencing after postoperative persistence of severe neutropenia.
Review the original publication for the complete reporting, methods, and context.
This Cure8 brief is based on source text from the linked article. Cure8 is informational only and is not a substitute for professional medical advice, diagnosis, or treatment.
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