title: Utility of screening for chronic granulomatous disease in patients with inflammatory bowel disease.
abstract: Chronic granulomatous disease (CGD), a genetically heterogeneous primary X-linked or autosomal recessive immunodeficiency, can manifest with gastrointestinal symptoms, including colitis or Crohn's disease. The frequency of CGD carriers among those with chronic colitis/inflammatory bowel disease is unknown. We underwent a pilot study examining the value of prospectively screening patients with chronic colitis/inflammatory bowel disease (IBD) for either CGD or the carrier state of CGD. No carriers of CGD or patients with CGD were detected among 120 patients. Three patients had inconclusive results and the assay was normal on repeat testing. We conclude that routine screening for CGD was not instructive in this cohort of chronic colitis or IBD patients.
authors.affiliation: Section of Infectious Diseases and Immunology, Nationwide Children's Hospital, Columbus, OH, USA. preeti.jaggi@nationwidechildrens.org
authors.forename: Preeti
authors.initials: P
authors.lastname: Jaggi
authors.forename: Rebecca
authors.initials: R
authors.lastname: Scherzer
authors.forename: Rose
authors.initials: R
authors.lastname: Knieper
authors.forename: Hayat
authors.initials: H
authors.lastname: Mousa
authors.forename: Vinay
authors.initials: V
authors.lastname: Prasad
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000150:complications*; D008297:Male; D010865:Pilot Projects; D055815:Young Adult
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